Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs

Ellis et al. (1996) described 3 female sibs (1 a fetus) with multiple congenital anomalies; one liveborn sib died at 16 days of age and the other at 13 months. All 3 had microcephaly and cardiovascular defects (arterial truncus in one, ventricular septal defects in the others). Unilateral renal agenesis was found in the 2 infants, and hypolobulation of lungs was found in an infant and the fetus. Each of the sisters had at least one of the following features: cleft palate, preauricular pits, hypoplastic alae nasi, hydranencephaly, neck webbing, and short terminal phalanges of fingers. Wolf-Hirschhorn (194190) and Smith-Lemli-Opitz (270400) syndromes were excluded by cytogenetic, molecular, and biochemical studies. Ellis et al. (1996) considered this complex to be a 'new' syndrome with presumably autosomal recessive inheritance.