Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?
A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beyrouth, Liban.
Abi Moussa
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M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D013577:Syndrome