title: Short rib-polydactyly syndrome: a case report.
abstract: Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer).
authors.affiliation: Department of Pediatrics, Adnan Menderes University, Faculty of Medicine, Aydin, Turkey.
authors.forename: Münevver
authors.initials: M
authors.lastname: Türkmen
authors.forename: Kübra
authors.initials: K
authors.lastname: Temoçin
authors.forename: Cağlar
authors.initials: C
authors.lastname: Acar
authors.forename: Edi
authors.initials: E
authors.lastname: Levi
authors.forename: Can
authors.initials: C
authors.lastname: Karaman
authors.forename: Gülten
authors.initials: G
authors.lastname: Inan
authors.forename: Nursel
authors.initials: N
authors.lastname: Elçioğlu
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*