A 2.25-KG, symmetric, small for gestational age girl was born after an unremarkable pregnancy. In the delivery room, she required some stimulation, oxygen, and a few breaths of bag and mask ventilation with positive pressure. Her Apgar scores were 7 and 9 at 1 and 5 minutes of life, respectively.
A physical examination showed that she has microcephaly, with a head circumference of 30.5 cm (Figure 1). She has up-slanting and narrow palpebral fissures, epicanthal folds, a broad nasal bridge, a small nose with a beaked tip, and malformed external ears (Figure 2). Findings from her cardiovascular examination were normal. She has disproportionately long fingers with fifth clinodactyly.
Initially, she would not nipple feed. When she did nipple feed, she would intermittently become cyanotic.
The gross and histopathological examination of the placenta revealed no abnormalities. The infant's karyotype is shown in Figure 3. Figure 4 shows the long arm of chromosome 10.
Costakos DT, Love LA, Josephson K, Sekhon G. Pathological Case of the Month. Arch Pediatr Adolesc Med. 1998;152(5):507-508. doi:10.1001/archpedi.152.5.507