A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?-Reference-Cited by-同舟云学术

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Published:2013-12-05 Issue:2 Volume:164 Page:287-290
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Roberts Jessica¹,Torres-Martinez Wilfredo¹,Farrow Emily²,Stevens Abby¹,Delk Paula¹,White Kenneth E.¹,Weaver David D.¹

Affiliation:

1. Department of Medical and Molecular Genetics; Indiana University School of Medicine; Indianapolis Indiana

2. Pediatric Center for Genomic Medicine; Children's Mercy Hospitals and Clinics; Kansas City Kansas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36273/fullpdf

Reference17 articles.

1. Radiohumeral synostosis, femoral bowing, other skeletal anomolies and anal atresia, a variant example of Antley-Bixler syndrome;Antich;Genet Couns,1993

2. The femoral hypoplasia-unusual facies syndrome;Burn;J Med Genet,1984

3. FGFR2 mutation associated with manifestations consistent with Antley-Bixler syndrome;Chun;Am J Med Genet,1998

4. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome;Fluck;Nat Genet,2004

5. Congenital microgastria with Pierre Robin sequence and partial trismus;Giurgea;Clin Dysmorphol,2000

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