Recently Carmi et a1 [1982] reported on two sibs with aplasia cutis congenita (ACC). They were born to consanguineous parents; and the disorder was thought to represent an autosomal-recessive trait. The phenotype consisted of extensive absence of skin, ear anomalies, small nose, hypoplastic nails, and pyloric atresia. We report on another set of affected sibs who seem to have the same disorder.
CASE REPORTSThese sibs were born to white, unrelated parents. The first was a male born at 32-33 weeks; the pregnancy had been complicated by polyhydramnios. At delivery brown amniotic fluid was noted. The skin appeared extensively eroded, and much of it slipped off during the vaginal delivery. Other anomalies present were wide skull sutures, narrow palpebral fissures, hypoplastic nose, micrognathia, apparently lowset, malformed ears, breast hypertrophy, flexed upper and lower limbs, overlapping fingers, and bilateral simian crease, these last three findings suggesting presence of an arthrogryposis. Chromosomes were normal. The child died at 3 days of respiratory distress and renal failure. Autopsy showed a patent ductus arteriosus, enlarged liver, and elongated kidneys.The affected sister was born 3 years later at 30 weeks. She also had the extensive skin defect and large fontanels, narrow palpebral fissures, hypoplastic nose, submucous cleft palate, micrognathia, apparently low-set, malformed ears, joint contractures, and rocker bottom feet (arthrogryposis). Chromosomes were normal. The child died at 6 days of respiratory distress. Autopsy showed fetal lobulation and infarction of the kidneys and retarded brain development with immature gyral pattern.