A newborn boy delivered at 38 weeks is small for gestational age. Physical examination shows microcephaly, frontal bossing, long and narrow forehead, hypotelorism, maxillary and mandibular hypoplasia, narrow palpebral fissures, thin elongated philtrum, vermilion border of the upper lip, dental malocclusion, saddle nose, tooth enamel hypoplasia, and uvular hypoplasia. Ocular problems include microphthalmia, corneal clouding, coloboma, nystagmus, strabismus, and ptosis. A systolic murmur is heard on auscultation, and echocardiography shows a membranous ventricular septal defect. Which of the following conditions is most likely to produce these findings?
Correct Answer: Fetal alcohol syndrome
Description: Alcohol is one of the most common environmental teratogens affecting fetuses, although the effects can be subtle. There is no threshold amount of alcohol consumption by the mother to produce fetal alcohol syndrome; no amount is safe. Children with fetal alcohol syndrome tend to be developmentally impaired throughout childhood, but the physical anomalies tend to become less apparent as the child matures. Vertebral abnormalities, including scoliosis, can be present. The liver can have fatty metamorphosis with hepatomegaly and elevated serum transaminases. The major effects of congenital rubella occur during organogenesis in the first trimester and result in more pronounced defects, including congenital heart disease. Maternal diabetes often results in a larger infant, and malformations may be present. Placenta previa, a low-lying placenta at or near the cervical os, can cause significant hemorrhage at the time of delivery or uteroplacental insufficiency with growth retardation before delivery. Placental causes of intrauterine growth retardation result in asymmetric growth retardation with sparing of the brain. The findings of trisomy 21 are subtle at birth, but typically include brachycephaly, not microcephaly.
Category:
Pathology
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