Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.
We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.
Richieri-Costa
A
A
Serviço de Genética Dlínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
Cohen
M M
MM
D000015:Abnormalities, Multiple / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome