Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus

We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic fe...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 44; no. 5; p. 555
Main Authors de Sierra, T M, Ashmead, G, Bilenker, R
Format Journal Article
LanguageEnglish
Published United States 15.11.1992
Subjects
Adult
Female
Humans
Hypospadias - complications
Infant, Newborn
Male
Pregnancy
Radiography
Short Rib-Polydactyly Syndrome - diagnostic imaging
Situs Inversus - complications
Ultrasonography, Prenatal
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Summary:We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity.
ISSN:0148-7299
DOI:10.1002/ajmg.1320440504