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Clin Dysmorphol. 1997 Jul;6(3):239-44.

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.

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Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beyrouth, Liban, France.


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.

[Indexed for MEDLINE]

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