To the Editor.—
Previously, we described two unrelated children with a new neuroectodermal syndrome,1-3 the major features of which included early onset migratory ichthyosiform dermatosis, colobomas bilaterally, conductive hearing loss, seizures, mental retardation, and remarkably similar facial features. In addition, case 1 (male) had a cleft palate and case 2 (female) tetralogy of Fallot. Although clinical findings and light and electron microscopic studies of skin biopsy specimens provided evidence for the unique nature of their condition, the etiology remained unknown. Since then, case 1 has had a male sibling born with similar features.
Report of a Case.—
A 6-month-old boy had been the full-term product of a 31-year-old mother (gravida 3, para 3) following an uncomplicated pregnancy. Birthweight was 3720 g (90th percentile), length was 53 cm (greater than 90th percentile), and head circumference was 34.5 cm (75th percentile). Because of cyanosis and respiratory distress at birth, the infant
Zunich J, Esterly NB, Kaye CI. Autosomal Recessive Transmission of Neuroectodermal Syndrome. Arch Dermatol. 1988;124(8):1188–1189. doi:10.1001/archderm.1988.01670080014008
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