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Baraitser-winter syndrome


Baraitser-Winter Syndrome

General: X-linked mental retardation, macrosomia, macrocephaly, and obesity syndrome.

Ocular: Ptosis; hypertelorism; down-slanting 232i88c palpebral fissures.

Clinical: May be confused with Noonan syndrome; phenotypic features appear to be variable.

Megarbana A, Le Merrer M, el Kallab K. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. Clin Dysmorphol

Monteiro de Pina-Neto J, de Molfetta GA. The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): a Brazilian case [Letter]. Clin Dysmorphol 1998; 7:233-234.

Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet 1993; 30:425-426.





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