Hand it to the skin in Costello syndrome

Abstract

A girl was born at 36 weeks' gestation to a 24-year-old Caucasian woman and a 31-year-old Guatemalan man. Prenatal ultrasound examination at 25 weeks' gestation showed foreshortened extremities and polyhydramnios. Karyotype analysis on cultured amniocytes was normal. The birth weight was 3100 g (50th percentile). There was relative macrocephaly (head circumference 36.5 cm, 95th percentile), short neck, short limbs (length 46 cm, 5th percentile), and redundant skin folds across the limbs and neck. Skeletal survey and cranial magnetic resonance imaging were normal. At age six months, the infant's weight and length were 5 SD less than the mean, and head circumference was at the 5th percentile. Recurrent vomiting, malabsorption, and mild primary hypothyroidism contributed to insufficient growth. Global developmental delay, central hypotonia, and horizontal nystagmus were present from early infancy.