Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
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.
Hamamy
Hanan A
HA
National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan.
Teebi
Ahmad S
AS
Oudjhane
Kamaldine
K
Shegem
N N
NN
Ajlouni
K M
KM
D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis*; D002648:Child; D003241:Consanguinity; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000175:diagnosis*; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D009216:Myopia / Q000150:complications / Q000175:diagnosis*; D010375:Pedigree; D035781:Siblings; D013577:Syndrome