Review Question - QID 217158

This patient with neurobehavioral deficits (e.g., difficulty concentrating, behavioral problems at school), developmental delay, history of strabismus, microcephaly, small palpebral fissures, smooth philtrum, thin vermillion border, diffusely decreased muscle tone, and poor motor coordination most likely has fetal alcohol syndrome. A hypoplastic midface is a common finding associated with fetal alcohol syndrome.

Fetal alcohol syndrome is a characteristic pattern of mental and physical defects that results from maternal use of alcohol during gestation. Alcohol crosses the placenta and can alter fetal development by disrupting cell differentiation and growth, DNA and protein synthesis, and cell migration. This can cause varied findings including facial dysmorphism, intellectual disability, growth delay, and microcephaly. In particular, short palpebral fissures, a thin vermillion border, and a smooth philtrum are characteristic facial dysmorphisms in fetal alcohol syndrome, and the presence of these findings is required to make a diagnosis. Other features associated with fetal alcohol syndrome include hypoplastic midface, epicanthal folds, flat nasal bridge, “hockey stick” palmar crease, and curved 5th finger. Prevention consists of education and social support for at-risk mothers. Treatment is supportive and includes occupational therapy, as well as social and academic support.

Williams et al. review fetal alcohol spectrum disorders on behalf of the American Academy of Pediatrics. The authors review the discovery, diagnostic criteria, clinical presentation, treatment, and prevention of fetal alcohol spectrum disorders. They recommend using digital interventions to decrease the rate of alcohol use in pregnant patients.

Incorrect Answers:
Answer 1: Cleft palate can be associated with fetal hydantoin syndrome, a characteristic pattern of mental and physical defects that results from maternal use of phenytoin during pregnancy. Other findings in fetal hydantoin syndrome can include microcephaly, facial dysmorphism, hirsutism, cardiac defects, hypoplastic nails, neural tube defects, and intellectual disability. This patient’s dysmorphic features are more suggestive of fetal alcohol syndrome.

Answer 2: Goiter is associated with cretinism, a disease caused by fetal hypothyroidism. Symptoms include growth restriction, severe mental retardation, coarse facial features, large protruding tongue, and umbilical hernia. This patient’s presentation is more consistent with fetal alcohol syndrome than cretinism.

Answer 3: Hypertrichosis is excess hair that can result from congenital mutations or acquired causes such as oral minoxidil use. The most well-known condition that presents with this finding is congenital terminal hypertrichosis ("werewolf syndrome"). This disease is associated with gingival hyperplasia.

Answer 5: Macrocephaly may be found in fragile X syndrome, a genetic syndrome caused by trinucleotide expansion in the untranslated region of the fragile X mental retardation 1 (FMR1) gene on the X chromosome. Findings in Fragile X syndrome include profound learning disability, neurobehavioral deficits, prominent ears, long face, macrocephaly, prominent brow, high arched palate, macroorchidism, and cardiac defects. However, this patient’s abnormalities are more specific for fetal alcohol syndrome.

Bullet Summary:
Fetal alcohol syndrome can present with midface hypoplasia, microcephaly, stunted growth, and neurobehavioral deficits but is not associated with a cleft palate or excess hair.