Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally

Author:

Balci Sevim,Erçal M. Derya,Önol Behsan,Çağlar Melda,Doğan Ahmet,Doğruel Nesrin

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

1. A new short rib syndrome;Beemer;Am. J. Med. Genet.,1983

2. Short rib polydactyly syndrome Majewski type;Chen;Am. J. Med. Genet.,1988

3. A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital morbus cordis: report of three cases;Ellis;Arch. Dis. Child.,1940

4. Dystrophie thoracique asphyxiante de charactere familial;Jeune;Arch. Franc. Pediatr.,1955

5. Polydactylie, verkürzte Gliedmassen und Genitalfehlbildungen: Kennzeichen eines selbständingen Syndroms;Majewski;Z. Kinderheilk.,1971

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1. Infantile hypertrophic pyloric stenosis—genetics and syndromes;Nature Reviews Gastroenterology & Hepatology;2012-07-10

2. Molecular Clinical Genetics and Gene Therapy;Pediatric Surgery;2012

3. Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report;Journal of Clinical Ultrasound;2009-09

4. Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly;Clinical Genetics;2008-06-28

5. S;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

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