Abstract
This boy's birth weight was 2960 gm. Sonogram done at 14 weeks gestation was normal; at 30 weeks sonogram showed no amniotic fluid. Cesarian section at 35½ weeks revealed a deformed infant with loose folds of skin hung around his head in an "elephant man" appearance. A cape-like fold drooped from the nape of his neck, and redundant skin hung from his trunk and extremities. Hands and feet were puffy like little balloons. On the right was a "Potter ear", and the palate was high-arched. The shoulders, radial heads and hips were dislocated. The digits appeared to dislocate in various directions. There was a left club foot. The phallus had a swollen foreskin, with 3rd degree hypospadias. Scrotum was hypoplastic with palpable right gonad. Karyotype was 46,XY. Renal, abdominal and head sonography were normal, as were echocardiography and EKG. The case closely resembles that of Kaye et al. (AJDC.127:115,1974). Experimental oligohydramnios in animals results in multiple articular deformities (including club feet), high-arched or cleft palate and primitive digits (DeMyer and Baird, Teratology 2:33 1969). Our patient shows many of the deformities seen in human oligohydramnios sequence. We propose that this clinical picture may be explained by a genetic defect (?single gene disorder) mediating the genital anomaly, cutis laxa and oligohydramnios, and that the various deformations follow in the train of the oligohydramnios.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bifano, E., Gardner, L., Sanders, K. et al. CUTIS LAXA, HYPOSPADIAS AND OLIGOHYDRAMNIOS SEQUENCE IN A NEWBORN: A DISCRETE SYNDROME. Pediatr Res 18 (Suppl 4), 304 (1984). https://doi.org/10.1203/00006450-198404001-01267
Issue Date:
DOI: https://doi.org/10.1203/00006450-198404001-01267