title: Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
abstract: Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure. This condition is quite rare with fewer than 50 case reports and series. Although pathogenesis is presumed to be genetic, the cause remains unknown. We report an individual with Bosma syndrome who had bilateral colobomatous microphthalmia, arhinia, high arched palate, mild ear malformations, and hypogonadotropic hypogonadism requiring growth hormone treatment in childhood, and normal intelligence. Clinical evaluation was significant for a geometrically abnormal aorta with effacement of the sinotubular ridge, a finding not previously reported in this condition. An MRI revealed absent olfactory bulbs. Suggested criteria for diagnosis of Bosma should include arhinia, hypoplastic maxilla, normal cognition, and hypogonadotropic hypogonadism in males.
authors: University of Minnesota Medical School, Minneapolis, Minnesota.
authors: Benjamin
authors: B
authors: Brasseur
authors: Department of Medicine, University of Minnesota, Minneapolis, Minnesota.
authors: Cindy M
authors: CM
authors: Martin
authors: Department of Radiology, University of Minnesota, Minneapolis, Minnesota.
authors: Zuzan
authors: Z
authors: Cayci
authors: Department of Medicine, University of Minnesota, Minneapolis, Minnesota.
authors: Lynn
authors: L
authors: Burmeister
authors: Department of Pediatrics, Ophthalmology and Vision Neuroscience, Genetics Cell Biology and Development, University of Minnesota, Minneapolis, Minnesota.
authors: Lisa A
authors: LA
authors: Schimmenti
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D002754:Choanal Atresia / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D003103:Coloboma / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D003318:Corneal Opacity / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D009666:Nose / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D009830:Olfactory Bulb / Q000000981:diagnostic imaging / Q000473:pathology
keywords: Bosma arhinia microphthalmia syndrome; arhinia; coloboma; microphthalmia