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August 1988

Autosomal Recessive Transmission of Neuroectodermal Syndrome

Author Affiliations

Department of Medical Genetics Northwest Center for Medical Education Indiana University School of Medicine 3400 Broadway Gary, IN 46408; Departments of Pediatrics and Medicine (Dermatology) Medical College of Wisconsin 1700 W Wisconsin Ave Milwaukee, WI 53201; Section of Genetics Lutheran General Perinatal Center 1875 Dempster St, Suite 325/335 Park Ridge, IL 60038

Arch Dermatol. 1988;124(8):1188-1189. doi:10.1001/archderm.1988.01670080014008

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

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