title: A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.
abstract: We report a severely mentally retarded young male with the features of the W syndrome. This syndrome, to date described in only two brothers of one family, is characterized by severe mental retardation with seizures and a pattern of facial dysmorphisms including high broad forehead, down-slanting palpebral fissures, hypertelorism, abnormal configuration of the maxilla and mandible, peculiar nose, and incomplete midline oral cleft. The face has been compared to that of a boxer (pugilistic face). Mild skeletal anomalies have also been described. Inheritance is probably X-linked. The present report corroborates the existence of this hitherto private syndrome.
authors.affiliation: Institut für Medizinische Genetik, Universität Zürich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome