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Am J Med Genet A. 2014 Feb;164A(2):287-90. doi: 10.1002/ajmg.a.36273. Epub 2013 Dec 5.

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

Author information

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

Abstract

In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

KEYWORDS:

Robin sequence; autism spectrum disorder; congenital hip dislocations; cryptorchidism; microgastria; proximal femoral deficiency; radiohumeral synostosis

PMID:
24311538
DOI:
10.1002/ajmg.a.36273
[Indexed for MEDLINE]
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