Renal Dysplasia-Limb Defects Syndrome

Schrander-Stumpel et al. (1990) described newborn brother and sister who died shortly after birth from respiratory failure. They showed growth retardation with a Potter-like face, complete phocomelia of the upper limbs, severe hypoplasia of the 6 upper ribs, renal dysplasia and abnormalities of the external genitalia. They suggested that these cases represent the same entity reported by Ulbright et al. (1984). The syndrome appears to be lethal because of severe renal dysplasia which causes oligohydramnios and pulmonary hypoplasia. Schrander-Stumpel et al. (1990) suggested the designations 'renal dysplasia--limb defects syndrome (RL syndrome).'