Article
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
American journal of medical genetics. Part A - 1 Feb 2014
Roberts Jessica, Torres-Martinez Wilfredo, Farrow Emily, Stevens Abby, Delk Paula, White Kenneth E, Weaver David D
Abstract excerpt
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...
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