THE INFANT pictured in Figure 1 and Figure 2 was born after a 41-week gestation, weighing 1876 g, to a 38-year-old woman who received levothyroxine sodium for hypothyroidism during her pregnancy. There was no family history of birth defects, mental retardation, or consanguinity.
Shortened extremities with absence of the thumbs and forearms are seen in Figure 1. Contractures of the knees and syndactyly of the fourth and fifth toes are present. Craniofacial features in Figure 2 include hypertelorism, short palpebral fissures, a downward obliquity to the palpebral fissures, corneal clouding, wide nasal bridge, bilateral clefting of the upper lip with extension to the nostrils, and a protruding premaxillary segment. Cardiac abnormalities detected were a patent ductus arteriosus, a patent foramen ovale, mild pulmonic valve stenosis, and aortic valve stenosis.
Chromosome analysis (Figure 3) of a cell in metaphase shows centromere separation (arrows).
Denouement and Discussion
Roberts-SC Phocomelia Syndrome