Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.
Mégarbané
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A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban, France. megarban@dm.net.lb
Le Merrer
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M
el Kallab
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K
D000015:Abnormalities, Multiple / Q000235:genetics*; D001251:Astigmatism / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009333:Neck / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics; D010375:Pedigree; D012640:Seizures / Q000235:genetics; D013577:Syndrome