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Mental retardation, hypotrichosis and syndactyly: a new entity?
Genet Couns. 1996; 7(1):47-51.GC

Abstract

We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested.

Authors+Show Affiliations

Lopes VL
Departamento de Genética Médica Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Marques-De-Faria AP
No affiliation info available

MeSH

Child, PreschoolDiagnosis, DifferentialEctodermal DysplasiaGenes, RecessiveHumansHypotrichosisIntellectual DisabilityMalePhenotypeSyndactylySyndromeTooth Abnormalities

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8652088

Citation

Lopes, V L., and A P. Marques-De-Faria. "Mental Retardation, Hypotrichosis and Syndactyly: a New Entity?" Genetic Counseling (Geneva, Switzerland), vol. 7, no. 1, 1996, pp. 47-51.
Lopes VL, Marques-De-Faria AP. Mental retardation, hypotrichosis and syndactyly: a new entity? Genet Couns. 1996;7(1):47-51.
Lopes, V. L., & Marques-De-Faria, A. P. (1996). Mental retardation, hypotrichosis and syndactyly: a new entity? Genetic Counseling (Geneva, Switzerland), 7(1), 47-51.
Lopes VL, Marques-De-Faria AP. Mental Retardation, Hypotrichosis and Syndactyly: a New Entity. Genet Couns. 1996;7(1):47-51. PubMed PMID: 8652088.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mental retardation, hypotrichosis and syndactyly: a new entity? AU - Lopes,V L, AU - Marques-De-Faria,A P, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 47 EP - 51 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 7 IS - 1 N2 - We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. This clinical association may represent an undescribed condition. Autosomal recessive inheritance is suggested. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/8652088/Mental_retardation_hypotrichosis_and_syndactyly:_a_new_entity L2 - http://www.diseaseinfosearch.org/result/4607 DB - PRIME DP - Unbound Medicine ER -