• Am. J. Med. Genet. A · Feb 2007

    Case Reports

    Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

    • Hanan A Hamamy, Ahmad S Teebi, Kamaldine Oudjhane, N N Shegem, and K M Ajlouni.
    • National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan.
    • Am. J. Med. Genet. A. 2007 Feb 1; 143A (3): 229-34.

    AbstractWe report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.(c) 2007 Wiley-Liss, Inc.

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