Short rib-polydactyly syndrome.
BACKGROUND
Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs.


METHODS
We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and cleft palate. The family was informed of the fatal outcome of the condition. Delivery was induced, and the baby died just after the birth.


CONCLUSIONS
Prenatal diagnosis is established with postmortem radiographic and pathologic examinations.
Naki
M M
MM
Department of Obstetrics and Gynecology, SSK Göztepe Training Hospital, Istanbul, Turkey. mmuratnaki@yahoo.com
Gür
D
D
Zemheri
E
E
Tekcan
C
C
Kanadikirik
F
F
Has
R
R
D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal