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Duodenal atresia
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Lens subluxation
Long extremities
Pectus excavatum
Shortened fourth and fifth metacarpals
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This patient presents with hypertension and physical exam findings of a broad chest, low hairline, and continuous flow murmur at the interscapular region consistent with coarctation of the aorta. These findings are consistent with Turner syndrome, a disease also associated with shortening of the fourth and fifth metacarpals.Turner syndrome (45, XO) classically presents with short stature, webbed neck, broad chest with widely spaced nipples, kyphosis or scoliosis, and amenorrhea at the time of puberty. It is also commonly associated with cardiac malformations, such as coarctation of the aorta and bicuspid aortic valve. Coarctation of the aorta results in hypertension of the upper extremities and hypotension of the lower extremities, which can cause lower-extremity claudication symptoms due to poor perfusion. On exam, coarctation typically presents as a continuous flow murmur best heard at the interscapular region. Patients with Turner syndrome may also have shortened fourth and fifth metacarpals. However, this finding is not specific to Turner syndrome and can also occur in pseudohypoparathyroidism, pseudopseudohypoparathyroidism, and Albright hereditary osteodystrophy. The treatment of patients with Turner syndrome includes evaluation by a pediatric cardiologist, administration of beta-blockers for aortic dilation, close monitoring for other comorbidities (learning disabilities, hearing impairment, and autoimmune disease), initiation of growth hormone therapy for patients between the 2nd to 5th percentile for height, and initiation of estradiol therapy around 11 to 12 years of age.Laurencikas et al. further describe the finding of shortened metacarpals. The authors find that metacarpophalangeal pattern profile analysis is a specific and sensitive methodology for patients with Turner syndrome. The authors recommend further study of this technique as a potential tool for early diagnosis of Turner syndrome in girls with unexplained short stature.Incorrect Answers:Answer 1: Duodenal atresia is a finding commonly associated with Down syndrome. After birth, patients typically present with abdominal distension or bilious vomiting. The characteristic sign on abdominal radiograph is the "double bubble", which reflects dilation of the stomach and proximal duodenum.Answer 2: Lens subluxation (or ectopia lentis) is found in a majority of patients with Marfan syndrome and homocystinuria. This condition is usually bilateral and non-progressive. It can vary from mild asymptomatic displacement to severe displacement causing monocular diplopia.Answer 3: Long extremities are a finding most commonly associated with Klinefelter syndrome or Marfan syndrome. Conversely, patients with Turner syndrome tend to have short stature and an increased upper-to-lower segment ratio.Answer 4: Pectus excavatum is a condition in which a person's ribs and sternum grow in an inward direction such that they are "sunken" into the chest. Depending on the degree of deformity, patients may be asymptomatic or experience exercise intolerance or chest pain due to pressure on the organs of the chest cavity. It is most commonly associated with Marfan syndrome and other connective tissue disorders, but can also occur on its own, unassociated with a congenital syndrome.Bullet Summary:Turner syndrome (45, XO) is commonly associated with coarctation of the aorta as well as several physical exam findings such as short stature, broad chest, widely spaced nipples, low hairline, and shortened fourth and fifth metacarpals.
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