A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?. Issue 2 (5th December 2013)

• Record Type: Journal Article
• Authors: Roberts, Jessica; Torres‐Martinez, Wilfredo; Farrow, Emily; Stevens, Abby; Delk, Paula; White, Kenneth E.; Weaver, David D.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 2(2014.)
• Page Start: 287
• Page End: 290
• Publication Date: 2013-12-05
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36273
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36273-sec-0001" sec-type="section"> <p>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. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>