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Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: New syndrome? †
Author(s) -
Hamamy Hanan A.,
Teebi Ahmad S.,
Oudjhane Kamaldine,
Shegem N.N.,
Ajlouni K.M.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31594
Subject(s) - hypertelorism , palpebral fissure , medicine , hypoplasia , maxillary hypoplasia , anatomy , psychology , neuroscience , distraction osteogenesis , distraction
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.