Abstract
The proband, a 2.9 kg term male, was live-born and died on day 5 of life following cardiopulmonary arrest. Autopsy revealed aqueductal stenosis with hydrocephalus; agenesis of the septum pellucidum, olfactory bulbs and tracts; focal cerebellar dysplasia; cystic lesions of the ganglionic eminence; acute and remote cerebral infarcts; aortic coarctation with a dysplastic, bicuspid aortic valve; ASD; VSD; severe hypospadias; sacrococcygeal sinus; left foot equinovarus deformity; simple low set ears; fifth finger clinodactyly; and abnormal palmar creases. The proband's half brother through a common mother was a pre-term infant who expired at age 13 days. Autopsy revealed aqueductal stenosis with hydrocephalus; cerebral and cerebellar dysplasia with neuronal and glial heterotropias; intraventricular hemorrhage; aortic dextroposition; pulmonary valve atresia; VSD; PDA; severe hypospadias; thoracic spina bifida occulta; low set ears; and unusual finger overlap. Both infants were 46,XY. Their mother had a maternal uncle with a large head and abnormal genitals who was stillborn, and a maternal aunt delivered a hydrocephalic stillborn male. Autopsy records are unavailable on these latter individuals. There have probably been four affected males in three generations of this family. This syndrome, which is of unknown embryologic pathogenesis, appears to be inherited as an X-linked recessive disorder.
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