Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. 828 84

Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.
 ...
PMID:W syndrome: report of three cases and review. 1059 87