Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally
- 1 April 1991
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 39 (4) , 298-303
- https://doi.org/10.1111/j.1399-0004.1991.tb03029.x
Abstract
Two sibs with Beemer type short rib syndrome, one of them diagnosed in utero, are reported. Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels. Dysplasia of pancreatic Langerhans cells was present in one sib.Keywords
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