Mental retardation, hypotrichosis and syndactyly: a new entity?
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.
Lopes
V L
VL
Departamento de Genética Médica Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Marques-De-Faria
A P
AP
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics