Saturday, January 31, 2015

Fetal alcohol syndrome

The infant pictured as follows was small for gestational age.

He also was found to have a ventricular septal defect on cardiac evaluation. This infant appeared to have features consistent with

a. Perinatal phenytoin exposure
b. Trisomy 21
c. Alport syndrome
d. Fetal alcohol syndrome
e. Infant of diabetic mother

Ans is D:
Fetal alcohol syndrome is a preventable cause of birth defects. Prenatal exposure to ethanol is the cause. Findings include microcephaly, small palpebral fissures, short nose, smooth philtrum, thin upper lip, ptosis, microphthalmia, cleft lip and palate, and central nervous system abnormalities including mental retardation (average IQ = 67).
Common findings with trisomy 21 include protruding tongue, Brushfield’s
spots, redundant neck skin, mental retardation, brachycephaly,
upslanting palpebral fissures, epicanthal folds, flat face, small ears, cardiac
abnormalities (especially ventricular septal defect or endocardial cushing
defect), palmar creases, and clinodactyly of the fifth digit.
Dilantin exposure causes midface hypoplasia, low nasal bridge, ocular
hypertelorism, and accentuated cupid’s bow of the upper lip. Other features
include cleft lip and palate, growth retardation, mental deficiency, distal
phalangeal hyperplasia, cardiovascular anomalies, and skeletal defects.
Alport syndrome is the most common of the hereditary nephritis conditions,
frequently leading to end-stage renal disease. In 85% of patients
with Alport syndrome, an X-linked dominant form of inheritance is found;
about 15% are autosomal recessive. All cause hematuria and progressive
nephritis. Other findings include deafness and ocular defects.
Infants of diabetic mothers have an increased chance of congenital
heart disease, caudal regression syndrome, and a small left colon; are large
for gestation age; and have a number of biochemical abnormalities such as
hypoglycemia or hypocalcemia.


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