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

Jessica Roberts, Wilfredo Torres-Martinez, Emily Farrow, Abby Stevens, Paula Delk, Kenneth E. White, David D. Weaver

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)287-290
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number2
DOIs
StatePublished - Feb 1 2014

Keywords

  • Autism spectrum disorder
  • Congenital hip dislocations
  • Cryptorchidism
  • Microgastria
  • Proximal femoral deficiency
  • Radiohumeral synostosis
  • Robin sequence

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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