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A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?
Author(s) -
Roberts Jessica,
TorresMartinez Wilfredo,
Farrow Emily,
Stevens Abby,
Delk Paula,
White Kenneth E.,
Weaver David D.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36273
Subject(s) - synostosis , etiology , medicine , sequence (biology) , anatomy , surgery , pathology , genetics , biology
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.