Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies.
We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome.
Richieri-Costa
A
A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.
Guion-Almeida
M L
ML
Ramos
A L
AL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008161:Lumbosacral Region / Q000002:abnormalities; D010384:Pelvic Bones / Q000002:abnormalities; D013577:Syndrome