title: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies.
abstract: We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome.
authors.affiliation: Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: A L
authors.initials: AL
authors.lastname: Ramos
mesh_terms: 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