Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents.
We report on a Brazilian girl with Carpenter syndrome born to consanguineous parents. She had normal neuropsychological development, postnatal overgrowth, and oligodontia of the permanent teeth. Clinical and genetic aspects are discussed.
Richieri-Costa
A
A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Pirolo Júnior
L
L
Cohen
M M
MM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive; D005877:Gigantism / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007360:Intelligence; D010375:Pedigree; D013577:Syndrome