Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. Issue 5 (3rd February 2016)

• Record Type: Journal Article
• Authors: Brasseur, Benjamin; Martin, Cindy M.; Cayci, Zuzan; Burmeister, Lynn; Schimmenti, Lisa A.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 5(2016)
• Page Start: 1302
• Page End: 1307
• Publication Date: 2016-02-03
• Subjects: arhinia -- microphthalmia -- coloboma -- Bosma arhinia microphthalmia syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37572
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2016 Wiley Periodicals, Inc.