Tags

Type your tag names separated by a space and hit enter

A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.
Clin Dysmorphol. 1993 Jul; 2(3):225-31.CD

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+Show Affiliations

Institut für Medizinische Genetik, Universität Zürich, Switzerland.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8287184

Citation

Bottani, A, and A Schinzel. "A Third Patient With Median Cleft Upper Lip, Mental Retardation and Pugilistic Facies (W Syndrome): Corroboration of a Hitherto Private Syndrome." Clinical Dysmorphology, vol. 2, no. 3, 1993, pp. 225-31.
Bottani A, Schinzel A. A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. Clin Dysmorphol. 1993;2(3):225-31.
Bottani, A., & Schinzel, A. (1993). A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. Clinical Dysmorphology, 2(3), 225-31.
Bottani A, Schinzel A. A Third Patient With Median Cleft Upper Lip, Mental Retardation and Pugilistic Facies (W Syndrome): Corroboration of a Hitherto Private Syndrome. Clin Dysmorphol. 1993;2(3):225-31. PubMed PMID: 8287184.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. AU - Bottani,A, AU - Schinzel,A, PY - 1993/7/1/pubmed PY - 1993/7/1/medline PY - 1993/7/1/entrez SP - 225 EP - 31 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 2 IS - 3 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8287184/A_third_patient_with_median_cleft_upper_lip_mental_retardation_and_pugilistic_facies__W_syndrome_:_corroboration_of_a_hitherto_private_syndrome_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8287184.ui DB - PRIME DP - Unbound Medicine ER -