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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: New syndrome?
American Journal of Medical Genetics, Part A, Volume 143, No. 3, Year 2007
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Description
We 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. © 2007 Wiley-Liss, Inc.
Authors & Co-Authors
Hamamy, Hanan Ali
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Teebi, Ahmad Said
Qatar, Doha
Weill Cornell Medicine-qatar
Oudjhane, K.
Canada, Toronto
Hospital for Sick Children University of Toronto
Shegem, Nadima S.
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Ajlouni, Kamel M.
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Statistics
Citations: 24
Authors: 5
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.31594
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Disability
Violence And Injury