Short rib-polydactyly syndrome: a case report.

SUMMARY: Turkmen M, Temocin K, Acar C, Levi E, Karaman C, Ýnan G,Elcioðlu N. Short rib-polydactyly syndrome a case report. Turk J Pediatr 2003;45: 359-362.Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletaldysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thoraxand visceral anomalies.Our case had coarsening of facial features, low-set ears, lobulated tongue, cleftpalate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateralpostaxial polydactyly of hands, and bifid big toe with zygodactyly were additionalfindings. Chest was narrow. Ambiguous genitalia was noted but testicles werein scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy.Radiographies of the skull revealed occipital horn accompanied by prominentexternal occipital protuberance. The thoracic cage was narrow and elongatedwith short and iliac wings, pubic and ischial rami were were hypoplastic, andboth acetabula were shallow and trident shaped. All tubular bones had wideand rounded metaphyses.Because clinical and radiological features of the four established subtypes arevery similar, there are difficulties in the classification. We report an infant whoseradiological, clinical and postmortem features were consistent with type IVSRPS (Beemer-Langer).