Webbed neck short stature. Patho Exam 1 Practice Questions .

Webbed neck short stature. Jul 22, 2025 · Many girls and women with Turner Syndrome look completely typical, especially when features like short stature or a webbed neck are mild or treated early. The facial features include: All ages Eyes: May be strikingly blue eyes with arched or diamond-shaped eyebrows A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. The most likely diagnosis is: A. The phenotypic expression of Noonan syndrome is extremely variable, with some affected subjects showing only minor features o … What disorder resulting from nondisjunction of sex chromosomes causes a syndrome whose characteristics include a webbed neck and short stature? Jun 29, 2021 · Written on 29/06/2021 , Last updated 14/10/2021 Other physical findings associated with this disorder include short stature, short fourth metacarpal, webbed neck, high palate and nail dysplasia. Webbed neck as a classic feature in Turner syndrome, often accompanied by a low posterior hairline and lymphedema. Case report: A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. Noonan syndrome is a common genetic disorder characterized by facial anomalies, congenital heart defect, short stature, webbed neck, chest deformities and undescended testes. Webbed neck and chest deformity are common, but there are usually no other webbed joints. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. A: Short stature, nonpitting lymphedema of the hands and feet, webbed neck, and low posterior hairline are the key assessment features in this condition. Ovaries underdeveloped D. In early childhood, ptosis (drooping eyelids), low set ears, short neck, and low hairline are characteristic. Some individuals also have a low hairline, high arched palate, and low-set ears. Question: Multiple Select QuestionSelect all that applyWhich of the following are characteristics of someone with Turner syndrome?Multiple select question. Short stature. Diagnosis is made by chromosome analysis. The father and a sister of the boy were also found with mild webbed neck, being possibly mildly affected Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility. Symptoms include: Delayed puberty Down-slanting or widely-spaced eyes Hearing loss (varies) Low-set or abnormally shaped ears Mild intellectual disability (only in about 25% of cases) Sagging eyelids (ptosis) Short stature Small penis Undescended testicles Unusual chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Study with Quizlet and memorize flashcards containing terms like In preparing a community teaching program, which information presented by the nurse addresses a type of secondary cancer prevention, A child is noted to have a very short stature,webbed neck, droopy eyelids, and recurrent infections. The two main clinical features of Turner syndrome are short stature and the lack of the development of In 1942 Varney, Ken-yon and Koch2 reported the association of short stature and primary ovarian insufficiency with an excess of urinary gonadotropins; webbed neck and cubitus valgus were not related findings. The nurse identifies this as being most likely related to which diagnosis? short stature – although birth weight is usually average, children with Noonan syndrome are frequently shorter than expected for their age. Almost all girls with TS have short stature and ovarian failure, although other physical findings and anomalies vary. Characteristic features observed in individuals with TS can be found in Table 1 . At birth, the diagnosis of TS may be made after the identification of edematous hands and feet. Cardiac anomalies such as coarctation of the aorta, pulmonary valve stenosis, hypertrophic cardiomyopathy, and septal defects are present in more than half of patients. A child presents with short stature, webbed neck, wide-spaced eyes, and pulmonary stenosis. Occurs in female E. What is the most likely diagnosis?, A 16-year-old girl presents for a routine check-up One study found that girls with TS were not diagnosed until an average of five years from the time that their height fell below the 5th percentile. Other characteristics of Turner syndrome include short stature, a webbed neck, a low posterior hairline, misshapen or rotated ears, a narrow palate with Oct 21, 2022 · Up to 95% of individuals with TS exhibit short stature (24). Dec 23, 2013 · A characteristic facial appearance. Learn what causes neck webbing and a low hairline as well as treatment options. 1. Which is the most probable cause of the client's condition? Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Individuals may also have droopy eyelids, a wide nose bridge, and low-set ears. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. [2]People with Noonan syndrome may be mildly affected, or more severely affected. Sep 24, 2013 · A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. The nurse identifies this as being most likely related to which diagnosis? Study with Quizlet and memorize flashcards containing terms like A child is noted to have a very short stature, webbed neck, droopy eyelids, and recurrent infections. Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. As adults, people with Noonan syndrome are often short – men average 165 cm (5’ 5") and women 152 cm (5’) in height low muscle tone, motor delay in infants and impaired coordination Apr 28, 2024 · The general characteristics of Turner syndrome include short stature, webbed neck, and amenorrhea. Dec 10, 2017 · In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. A wide range of clinical abnormalities, including cardiac and renal anomalies, may be found (Table 1). Jun 28, 2017 · In 1938, Turner (1938) reported a syndrome of sexual infantilism, short stature, webbed neck, cubitus valgus, and primary amenorrhea in seven female patients. DiGeorge syndrome Study with Quizlet and memorize flashcards containing terms like A 15-year-old female presents with amenorrhea and short stature. However, she takes part in and enjoys activities that require verbal communication. Henry Turner who first described it in 1938. Incidence: ~1 in 2500 live-born phenotypic female births. More than 95% of adult women with Turner syndrome exhibit short stature and infertility. Dec 23, 2013 · Symptoms of Noonan syndrome may include the following: A characteristic facial appearance. Many variations in neonatal Turner syndrome. Jun 17, 2022 · In 1930, Ullrich described an 8-year-old girl with short stature; lymphedema of the neck, hands, and feet; subsequent neck webbing, cubitus valgus, and other phenotypic abnormalities (including a high arched palate, ptosis, low-set auricles, and small upwardly curved nails); and several other features that are now associated with Turner syndrome. It causes symptoms like short stature and delayed puberty. A webbed neck, ear deformities, broad chest, and cardiac or renal mal-formations resulting from the congenital lymphedema may also be apparent. Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In summary, for a 15-year-old female who is short in stature, lacks secondary sexual characteristics, and has a webbed neck, the diagnosis that best describes these observations is Turner syndrome. Redundant skin or a webbed neck may be seen in trisomy 21 and in Turner and Noonan syndromes. The father and a sister of the boy were also found with mild webbed neck, being possibly mildly affected Study with Quizlet and memorize flashcards containing terms like The assessment of a new female client revealed a webbed neck, low posterior hairline, shield-shaped chest, and short stature. The nurse identifies this as being most likely related to which diagnosis?, A couple wants to start a family. Noonan syndrome develops in a baby Jan 20, 2025 · Turner Syndrome is a genetic disorder caused by the absence or abnormality of one X chromosome, leading to developmental issues such as short stature, delayed puberty, infertility, and various health complications. Physical examination reveals a webbed neck, shield-shaped chest, and a low posterior hairline. Klippel–Feil syndrome is characterized by a short neck, low posterior hairline, and restricted mobility of the upper spine. It has been reported in four Arab Bedouin siblings born to consanguineous parents. Cognitive Jan 1, 2016 · In 1938, Turner (1938) reported a syndrome of sexual infantilism, short stature, webbed neck, cubitus valgus, and primary amenorrhea in seven female patients. The most common features of Turner syndrome include significant short stature, gonadal dysgenesis and ovarian failure leading to lack of or incomplete puberty, cardiac anomalies, and renal anomalies. Approximately 25% of individuals with Noonan syndrome have intellectual disablity. Many affected babies are never diagnosed because no problem is suspected. Apr 8, 2014 · People with Turner syndrome often have short stature, heart defects, a webbed neck, and infertility—but with proper medical care, their life expectancy is usually normal. Normal intelligence, short stature, webbed neck, absence of sexual maturation, broad shield-like chest, and widely space nipples E. May 13, 2025 · Turner syndrome happens when a female is born with one missing or a partial X chromosome. She dislikes mathematics, as she has difficulty understanding the subject. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. On physical exam you note cubitus valgus and a webbed neck. Turner syndrome can affect: 1 Appearance. Birth weight and length may be normal but lymphedema is often present in newborns. Study with Quizlet and memorize flashcards containing terms like Which gender does Turner's syndrome affect?, How many X-chromosomes is a female born with?, What is the most common symptom of Turner's Syndrome? and more. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. They are concerned that their child will be at risk for cystic fibrosis A patient with short stature and presents to the office with complaints of a heart palpitation. The Psychiatric Technician would most likely be correct in thinking that the client has:, When working with clients in training activities, the Psychiatric Technician is aware that one of the following is 4 years of age; and infertility in women. Since short stature is the most common Patho Exam 1 Practice Questions . Turner’s Syndrome is a genetic condition named after Dr. Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. As they grow up, the girls develop short stature, “shield” chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist. The cardiovascular defects most commonly short stature (progressive decline in growth velocity), low posterior hairline, cubitus valgus, short 4th metacarpals, disproportionately short legs, broad chest, prominent ears, pigmented nevi, scoliosis, micrognathia. Nov 15, 2001 · Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. The mother had an Neonate with severe webbed neck, loose skin and lymphedema. Short neck, often with extra folds of skin, called a webbed neck. Common physical traits include a short stature and webbed neck. Hormone therapy is often necessary for sexual development. Turner syndrome is a condition that occurs in females who typically have a single X chromosome instead of two (45,X karyotype, also known as monosomy X). Aug 1, 2007 · Other characteristics of Turner syndrome include short stature, a webbed neck, a low posterior hairline, misshapen or rotated ears, a narrow palate with crowded teeth, a broad chest with widely Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al. In Study with Quizlet and memorize flashcards containing terms like The nurse is caring for a pediatric client diagnosed with Turner syndrome. Cardiac auscultation identifies a murmur consistent with a bicuspid aortic valve. Signs and symptoms may include short stature, premature ovarian failure, a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Here is an example of lymphedema of the feet as a result of Turner's syndrome. Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems, and skeletal abnormalities. While symptoms vary widely, they most often include unusual facial features, short stature and heart problems. Aug 21, 2019 · Females with Turner syndrome may have a short, webbed neck with a low posterior hairline; short stature; drooping of the upper eyelids (ptosis) and/or widely spaced eyes (ocular hypertelorism); widely spaced, inverted, and/or underdeveloped (hypoplastic) nipples; congenital heart defects, especially coarctation; and/or kidney abnormalities. Study with Quizlet and memorize flashcards containing terms like Which gene on the Y chromosome plays a crucial role in the development of male genitals?, In normal females, the second X chromosome forms an inactive mass called a _____. Stature. A) Webbed neck B) Short stature C) Increased risk for Leukemia D) Premature ovarian failure, Which of the following statements is NOT true about Turner syndrome? A webbed neck A short neck/low posterior hairline Pectus excavatum (sunken sternum) or pectus carinatum (protruding sternum) Scoliosis (abnormal lateral curvature of the spine) Lymphoedema Bleeding disorders Hypogonadism (impaired gonad function that can lead to insufficient production of sex hormones). Study with Quizlet and memorize flashcards containing terms like A child is noted to have a very short stature, webbed neck, droopy eyelids, and recurrent infections. Turner syndrome is a syndromic condition resulting from complete or partial absence of the second sex chromosome. Classical Features (described by Turner, 1938): Short stature Webbed neck (pterygium colli) Cubitus valgus (forearm angle) Broad, shield-like Manifestations vary, but short stature, webbed neck, broad chest, gonadal dysgenesis, and cardiac anomalies (commonly coarctation of the aorta and bicuspid aortic valve) are common; intellectual disability is rare. [16] The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with those with multiple. Physical assessment reveals a webbed neck; short stature; and a broad, shieldlike chest. Turner syndrome is a chromosomal disorder, in which women have the complete or partial absence of one X chromosome. The nurse will expect which of the following diagnoses?, A mother of a 6-month-old infant presents to the clinic for a wellness visit. Other symptoms observed in infancy, including webbed neck, lymphedema, and coarctation of the aorta, also indicate a requirement for genetic testing (27). Abstract Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. While both syndromes have unique characteristics, they require different approaches in terms of medical management and support. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. Short stature, the lack of secondary sex characeristics, and primary amenorrhea are significant features seen later in the development of these females. Females with Turner Syndrome may experience physical traits like a webbed neck, low-set ears, and short fingers, alongside medical challenges including heart defects, hearing loss Disease Overview Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. Noonan syndrome is another common genetic cause with webbed neck, short stature, characteristic facial features, and congenital heart defects, especially pulmonary valve stenosis. , 2021). Characteristics include short stature, lack of sexual development at puberty, a webbed neck, heart defects, and/or other abnormalities. Learning disabilities Noonan syndrome does not affect the intelligence of most people who have the condition. Noonan syndrome D. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Noonan syndrome (NS) is a rare autosomal dominant condition or a genetic mutation present from birth, that causes a distinctive appearance and a range of health problems[1]. Study with Quizlet and memorize flashcards containing terms like The staging TNM system for classifying cancers is used to describe:, A child is noted to have a very short stature, webbed neck, droopy eyelids, and recurrent infections. What syndrome, characterized by an absent homologous X chromosome with only a single X chromosome, exhibits features that include a short stature, widely spaced nipples, and webbed neck? Sep 2, 2023 · The symptoms that the 15-year-old female client is displaying, such as a lack of secondary sexual characteristics, short stature, and a webbed neck, are commonly associated with Turner Syndrome. Growth failure, lack of pubertal Noonan syndrome is characterized by mildly unusual facial features, short stature, chest deformity, congenital heart defects, bleeding problems, skeletal malformations, renal malformation, pubertal delay, webbed neck, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. May 25, 2023 · Nipples that are wide apart. All of the above. Normal intelligence, small testes, hyalinization of seminiferous tubules, aspermatogenesis, tall stature, and disproportionately long lower limbs Turner syndrome is often diagnosed at birth by the presence of a webbed neck, edema of the hands and feet, and a very low birth weight (below the third percentile) (Fig. Based on the most likely diagnosis, what is the cardiovascular abnormality noted Mar 1, 2007 · We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, café au lait spot, curled hairs, foetal pads, and undescended testes. , Which of the following are characteristics of someone with Turner syndrome? and more. Later in 1954, it was observed that the ovaries were usually replaced by streaks of stroma without Study with Quizlet and memorize flashcards containing terms like Which symptoms present in a child indicate Turner syndrome? Select all that apply. Turner syndrome is associated with many additional abnormalities, including infertility, coarctation of the aorta, horseshoe kidney, and osteoporosis. ). May 14, 2025 · If a female infant has a wide or webbed neck, a broad chest, widely spaced nipples, short stature, and undeveloped ovaries, TS may be present. , coarctation of the aorta and bicuspid aortic valve) occur in 50% of patients. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. Nursing Care Planning and Goals The major nursing care planning goals for patients with Turner syndrome are: A short neck, low hairline at the back of the head, and restricted mobility of the upper spine are characteristic features of the Klippel-Feil syndrome. Find step-by-step Biology solutions and your answer to the following textbook question: Which of the following are characteristics of someone with Turner syndrome? A. 1–3 Later in childhood, Turner Mar 7, 2025 · Noonan syndrome is a rare genetic disorder. 2 Disorders of Aug 1, 2007 · Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. what physical features are seen in adolescence? short stature and delayed puberty, delayed epiphyseal fusion. A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. This can make the neck seem broad and is sometimes called "webbing. You may also have heart defects. Narrow fingernails Webbed neck Short stature Swollen hands Low-set ears, An 8-year-old child is brought to the emergency department after being lost in the woods for the past 10 Dec 10, 2017 · In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. 16 The authors of that study proposed the following guidelines for screening for TS: Any girl with one or more of the following: Short stature (height <5th percentile), webbed neck, peripheral D. [5] Read about the characteristic features of Noonan syndrome, including unusual facial features, short stature and heart defects. Mar 22, 2024 · Noonan syndrome and Turner syndrome have similarities, including their underlying genetic causes and features like short stature or a webbed neck. Early detection and treatment can ease symptoms and prevent complications. Although birth length is Natasha has a short stature, even though everyone else in her family is tall. Disease definition Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. Option 2, amenorrhea, is correct while increased fertility and gigantism are not associated with this disorder. Heart defect present at birth (congenital heart defect). This genetic disorder results in various physical and developmental challenges. Jun 22, 2025 · Clinical presentation often includes short stature, delayed puberty, primary amenorrhea, lymphedema at birth, and characteristic features, including a webbed neck and low-set ears. A child is noted to have a very short stature, webbed neck, droopy eyelids, and recurrent infections. In this case, Turner's syndrome was the underlying diagnosis. Turner syndrome, though, only affects females and can also disrupt reproduction and fertility. a: Webbed neck b: Impaired language c: Tall stature with long legs d: Low position of posterior hairline e:Shield-shaped chest with wide space between the nipples, On the day after surgery for insertion of a ventriculoperitoneal shunt to treat Facial features People with Noonan syndrome have characteristic facial features, particularly during childhood, which change with age and may be insignificant in adult life. Turner syndrome B. Noonan's syndrome is associated with short stature, mild mental retardation, epicanthal folds, low set ears, low posterior hairline, webbed neck, shield chest, scoliosis, pectus excavatum, cubitus valgus and a variety of anomalies of the cardiovascular system. This condition leads to short stature, infertility, and certain physical characteristics like a webbed neck and low-set ears. Two patients with Noonan's syndrome, congenital heart disease and systemic venous anomalies are presented, and 204 cases of Noonan's Apr 8, 2023 · Peripheral stigmata: webbed neck, cubitus valgus, broad chest with widely spaced nipples, short 4th digit, scoliosis, low set ears, low posterior hairline, high arch palate, increased melanocytic naevi. Cystic hygromas are soft, fluctuant masses that transilluminate and are usually unilateral. Facial appearance can show minor anomalies but is generally normal except when webbed neck is prominent. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. A baby born with Noonan syndrome may have a short neck, with excess skin where the neck joins the shoulders. But they may have: A higher risk of learning disabilities and mild intellectual disability. Risk of gonadal cancer is increased; it is often recommended to remove the gonads prophylactically, although this is controversial. Early diagnosis and intervention are crucial for managing the associated health conditions and maximizing the quality of life for individuals with Turner syndrome. Up to 95% of individuals with TS exhibit short stature (24). We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome. The etiology of short stature ranges from normal variants like familial short stature (FSS) & constitutional growth delay (CGD) to pathological conditions like endocrine & systemic disorders. Although birth length is Jun 16, 2021 · Turner's Syndrome is a common congenital disorder caused by a missing X chromosome that presents with scoliosis, short stature, webbed neck, amenorrhea, cardiovascular abnormalities, and osteoporosis. Risk for imbalanced nutrition, more than the body requires. Cardiovascular anomalies (e. The nurse will expect which of the following diagnoses? Jan 14, 2007 · Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. Noonan syndrome: relatively common disorder characterised by short stature, typical facial features and congenital heart defects. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues Short stature is one of the major components of many dysmorphic syndromes. Shield-shaped chest Widely spaced nipples Webbed neck Edema of hands/feet Lowset hairline Short stature Dec 20, 2023 · This chromosomal abnormality can result in physical features such as short stature and webbed neck. Turner SyndromeTURNER SYNDROME (GONADAL DYSGENESIS) Overview Definition: Turner syndrome, or X-chromosome monosomy, is a leading consideration in short-stature females with primary amenorrhea. The nurse identifies this as being most likely related to which diagnosis?. Unlike her family members and relatives, she has a webbed neck. In the photo above, the edema of the hand is striking. Dysplasia of the Apr 30, 2024 · Disturbed body image related to differences in physical characteristics as evidenced by webbed neck, shield chest, and short stature. ADHD in the Family: ADD vs ADHD, Recognizing Symptoms & Building Better Feb 1, 1981 · Common features in Noonan and Turner syndrome:short stature, epicanthic folds, ptosis, low set or malformed ears, webbed neck, low posterior hairline, highly arched palate, cubitus valgus. [from SNOMEDCT_US] A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. Short stature B. g. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. The nurse will expect which of the following diagnoses, what is a major leading factor to Jan 24, 2024 · The characteristics associated with Turner syndrome include short stature, webbed neck, and a normal IQ. Synopsis Key Points Turner syndrome affects females and presents with characteristic features, most commonly short stature, delayed puberty, webbed neck, shield chest, short fourth metacarpal, and/or nail hypoplasia; infants classically present with transient congenital lymphedema Caused by complete or partial absence of the second sex chromosome in phenotypic females History and physical Study with Quizlet and memorize flashcards containing terms like The assessment of a new female client revealed a webbed neck, low posterior hairline, shield-shaped chest, and short stature. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. Webbed neck C. Physical differences can range from subtle to more noticeable, but not everyone with TS displays all symptoms. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. , optic disc coloboma). 11-4). The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature, and chest deformity. Redundant skin or a webbed neck may be seen in Trisomy 21 and in Turner and Noonan syndromes. Girls with Turner syndrome grow more slowly than other children. Study with Quizlet and memorize flashcards containing terms like A nurse assesses that a 15-year-old female client has not developed secondary sexual characteristics, is short in stature, and has a webbed neck. Terms in this set (4) short stature, female genitalia, webbed neck, shieldlike chest with underdeveloped breasts and widely spaced nipples, and imperfectly developed ovaries Patients are phenotypically female and have short stature, webbed neck, widely spaced nipples, and gonadal dysgenesis. An unusual chest shape with widely-spaced and low set nipples. Other features include short stature, webbed neck, low posterior hairline, wide carrying angle of the arms (cubitus valgus), broad chest with widely spaced nipples, multiple pigmented nevi, and hyperconvex fingernails. If the child is diagnosed early proper treatment with growth hormone can be offered. It has been reported in four Arab Bedouin sibs born to consanguineous parents. " Frequently there are differences in the eyes, including strabismus (cross-eyedness), nystagmus (eye tremors) and very bright blue-green iris. Patients are short in stature. Introduction A syndrome involving valvular pulmonary stenosis, small stature, hypertelorism, mild mental retardation, undescended testes, and skeletal abnormalities was first described by Noonan and Ehmke in 1963 [1]. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. It is typically inherited in an autosomal dominant manner Jan 27, 2023 · Noonan syndrome is a genetic condition that can affect many parts of your child’s body. Additionally, there may be a heart murmur, chest deformities, and hearing problems. Which assessment finding(s) will the nurse expect? Select all that apply. Bleeding diathesis is present in Dec 12, 2018 · The physical characteristics associated with NS include a broad, webbed neck, heart defects, a short stature, pubertal delay, deformity of the sternum, bleeding disorders, and characteristic facial features. The neck is usually webbed (pterygium colli) and the ears low-set. An unusual chest shape with widely-spaced and low set nipples Sep 30, 2024 · Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. You auscultate and hear a systolic murmur best heard at the right second intercostal space. Bleeding problems such as a history of abnormal bleeding or bruising. Turner syn-drome, however, is not always accompanied by dis-tinctive features and most often is not diagnosed in infancy. Short stature-webbed neck-heart disease syndrome Summary This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. The sternum may be deformed. Later in 1954, it was observed that the ovaries were usually replaced by streaks of stroma without Feb 19, 2024 · While other features such as short stature and undifferentiated sexual characteristics are common in Turner syndrome, the specific combination of cystic hygroma, webbed neck, and flat nasal profile is particularly characteristic. Jul 18, 2023 · Some symptoms associated with Noonan syndrome may superficially resemble those with Turner syndrome (due to certain findings that may be associated with both disorders, such as short stature, webbed neck, etc. The Psychiatric Technician would most likely be correct in thinking that the client has:, When working with clients in training activities, the Psychiatric Technician is aware that one of the following is drome in children, namely, short stature and other features, such as lymphedema, webbed neck, low posterior hairline, and cubitus valgus. Fortunately, the normal variants form Aug 5, 2015 · Characteristic features include low-set, posteriorly rotated ears, hypertelorism, ptosis, short stature, congenital heart defects, webbed neck, and down-slanting palpebral fissures. Cystic hygromas are soft fluctuant masses (usually unilateral) that transilluminate. It affects roughly 1 in 1,000 to 1 in 2,500 people, making NS one of the most common genetic disorders. Question: Which of the following are characteristics of someone with Turner syndrome?short staturewebbed neckovaries underdevelopedtall staturemalefemaletestes underdevelopedround face Jan 17, 2024 · Explanation The child's symptoms of very short stature, webbed neck, droopy eyelids, and recurrent infections are indicative of Turner syndrome, a chromosomal disorder that affects females. Minor eye problems such as strabismus in up to 95 percent of individuals. Study with Quizlet and memorize flashcards containing terms like Which of the following is NOT a characteristic of Turner syndrome? A) Webbed neck B) Short stature C) Increased risk for Leukemia D) Premature ovarian failure, Which of the following statements is NOT true about Turner syndrome? A) Women with Turner syndrome are almost universally infertile B) 99% of Turner syndrome conceptions Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. Approximately two-thirds of the height deficit can be attributed to haploinsufficiency of the short stature homeobox (SHOX) gene, which encodes a transcription factor mainly expressed by osteogenic cells (24, 125). Noonan syndrome is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Down syndrome C. The girl is likely to have Turner Syndrome, which is characterized by short stature, a webbed neck, and underdevelopment of sexual characteristics due to the lack of an X chromosome. Short stature is a common problem encountered by practicing pediatricians. Jan 1, 2014 · Noonan syndrome is a common genetic disorder with multiple congenital abnormalities. A broad or webbed neck. We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, café au lait spot, curled hairs, foetal pads, and undescended testes. Noonan Syndrome is characterized by certain physical features, including a short stature, a webbed neck, and a small head. 6 They occur about as often in the population, with the same potential to cause heart problems. Short stature, a hallmark of the syndrome, is generally 3 standard Oct 11, 2024 · Morphology: Associated with short stature, a webbed neck, and a broad chest with widely spaced nipples. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. Oct 23, 2019 · Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. A nurse is caring for a female client at 19 years of age who never had a menstrual cycle. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and Noonan syndrome (NS) is a genetic disorder characterized by unusual facial features, short stature, heart defects and can present with visual loss including optic nerve hypoplasia or cavitary disc anomalies (e. We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity Introduction Growth is an important objective parameter of the general health of a child. Therefore, the correct answer is D) All of the above. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. ovaries underdevelopedmaletall statureround faceshort staturetestes underdevelopedfemalewebbed neck Dec 24, 2021 · Symptoms amenorrhea short stature webbed neck Physical exam amenorrhea with present uterus coarctation of the aorta may be evident on auscultation This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. A spine that has an unusual curve. yoqppqw rcyol ppbwqt lhxc lwd hprz rgx vcmztym mvazw uqterkaib