Abstract
Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of
an autosomal recessive inheritance characterized by markedly narrow ribs,
micromelia, and multiple anomalies of major organs. We report a case of type IV
SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys,
in a 28 week old female fetus. She was born dead to a 28 year old mother,
showing a hydropic change, narrow thorax, and shortened limbs with postaxial
heptasyndactyly of both hands and feet. Radiologic examination revealed short
horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a
mild vertebral abnormality. Postmortem examination disclosed pulmonary
hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior
vena cava. In addition this case had bilateral huge polycystic renal dysplasia
that was seldom described in any type of SRPS. Histologic sections of the
vertebrae disclosed abnormal enchondral ossification with irregular and retarded
hypertrophic zone.