A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
| Autor: | Kenneth E. White, David D. Weaver, Paula Delk, Jessica L. Roberts, Emily G. Farrow, Abby K. Stevens, Wilfredo Torres-Martinez |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Radiohumeral synostosis Hamartoma Bone and Bones Dislocated hips Holoprosencephaly Genetics medicine Humans Microphthalmos Abnormalities Multiple Femur Child Lung Mullerian Ducts Genetics (clinical) Robin Sequence Pierre Robin Syndrome business.industry Facies Microgastria Anatomy Syndrome medicine.disease Radiography Radius Phenotype Synostosis Autism spectrum disorder Etiology business Hypothalamic Diseases |
| Zdroj: | American journal of medical genetics. Part A. (2) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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