Short rib-polydactyly syndrome

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. We report a case of SRPD subtype II (Majewski) that was detected in the 36...

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Bibliographic Details
Published in:	Archives of gynecology and obstetrics Vol. 272; no. 2; pp. 173 - 175
Main Authors:	Naki, M M, Gür, D, Zemheri, E, Tekcan, C, Kanadikirik, F, Has, R
Format:	Journal Article
Language:	English
Published:	Germany Springer Nature B.V 01-08-2005
Subjects:	Adult Diagnosis, Differential Fatal Outcome Female Humans Infant, Newborn Male Pregnancy Short Rib-Polydactyly Syndrome - diagnosis Short Rib-Polydactyly Syndrome - diagnostic imaging Short Rib-Polydactyly Syndrome - pathology Ultrasonography, Prenatal
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Summary:	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. 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. Prenatal diagnosis is established with postmortem radiographic and pathologic examinations.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0932-0067 1432-0711
DOI:	10.1007/s00404-004-0696-9