Related Self Assessment Question Patients with genetic disorders or those affected by specific teratogens in utero, typically have certain characteristic dysmorphic features. Match this physical description with the genetic or teratogenic abnormality: a newborn with hypoglycemia, hypocalcemia, and hypoplastic lower extremities. A. Trisomy 21 (Down syndrome) B. Trisomy 18 (Edwards syndrome) C. Holt-Oram syndrome D. Diabetic embryopathy E. Fetal alcohol syndrome F. Turner syndrome G. Ehlers-Danlos syndrome EXPLANATION: Ehlers-Danlos syndrome is characterized by thin fragile skin, easy bruising, and joint hypermobility. Mitral valve prolapse has been reported. There are several different variants. One of these variants, the vascular form (type 3), can result in rupture of the aorta. Trisomy 21, also known as Down syndrome, is easily recognized in older children and adults, but may be more difficult to diagnose in infancy. Characteristics include upslanting palpebral fissures with epicanthal folds, hypotonia, small ears, and a single transverse palmar crease. About half of patients with Down syndrome will have some type of cardiac abnormality. Holt-Oram syndrome is characterized by abnormalities in the upper extremities, hypoplastic radii, thumb abnormalities, and cardiac anomalies. Occasionally the pectoralis major muscle is missing in Holt-Oram, and as such it needs to be considered when discussing Poland syndrome. Mothers who consume alcohol during pregnancy put their infant at risk of fetal alcohol syndrome. Key features include growth retardation, short palpebral features, short nose, thin upper lip, mental retardation, heart defects, and behavioral abnormalities. Turner syndrome (XO) is characterized by short stature, low ears, a wide chest with widely spaced nipples, broad based neck, low hairline, extremity edema, and congenital heart defects (typically coarctation or bicuspid aortic valve). Intelligence is normal. Trisomy 18 (Edwards syndrome) babies are small with low-set ears, a prominent occiput, a short sternum, a closed hand with overlapping fingers, cardiac defects, rocker-bottom (rounded) feet, cleft lip and/or palate, and renal and genital abnormalities. Mortality is 50% in the first week and 90% in the first year. Infants born to diabetic mothers are frequently macrosomic and may become hypoglycemic. However, they can have many other problems as well, including cardiac septal hypertrophy, congenital heart disease, caudal regression, vertebral defects, and a single umbilical artery. The answer is D. Xtra Edge Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail. This condition is found in approximately one out of every 100,000 live births (about as rare as conjoined twins) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and urinary bladder development and function. More than half the cases of sirenomelia result in stillbirth and this condition is 100 times more likely to occur in identical twins than in single births or fraternal twins. It results from a failure of normal vascular supply from the lower aorta in utero. Source
