title: A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
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.
authors: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors: Jessica
authors: J
authors: Roberts
authors: Wilfredo
authors: W
authors: Torres-Martinez
authors: Emily
authors: E
authors: Farrow
authors: Abby
authors: A
authors: Stevens
authors: Paula
authors: P
authors: Delk
authors: Kenneth E
authors: KE
authors: White
authors: David D
authors: DD
authors: Weaver
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D019066:Facies; D005269:Femur / Q000002:abnormalities*; D006222:Hamartoma / Q000175:diagnosis*; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis*; D008168:Lung / Q000002:abnormalities*; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis*; D009095:Mullerian Ducts / Q000002:abnormalities*; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis*; D011859:Radiography; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000175:diagnosis*
keywords: Robin sequence; autism spectrum disorder; congenital hip dislocations; cryptorchidism; microgastria; proximal femoral deficiency; radiohumeral synostosis