Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature

Benjamin Brasseur, Cindy M Martin, Zuzan Cayci, Lynn A Burmeister, Lisa A. Schimmenti

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1302-1307
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number5
DOIs
StatePublished - May 1 2016

Keywords

  • Arhinia
  • Bosma arhinia microphthalmia syndrome
  • Coloboma
  • Microphthalmia

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