Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.
We report on 3 Brazilian children with short stature, microcephaly, cleft palate, lateral synechiae, and mild mental retardation. One patient was an isolated case and the other had an equally affected brother. Genetic aspects and phenotypic manifestations are compared with those of previous reports with oral synechiae. Recurrence in sibs suggests autosomal recessive inheritance.
Nakata
N M
NM
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002680:Chin / Q000002:abnormalities; D002972:Cleft Palate / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009061:Mouth Mucosa / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome