Newly recognized autosomal recessive faciothoracoskeletal syndrome.
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome.
Richieri-Costa
A
A
Serviço de Genética Clínia, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
Lauris
J R
JR
Ferreira
D M
DM
D000015:Abnormalities, Multiple / Q000473:pathology*; D016569:Blepharophimosis; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D005660:Funnel Chest; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D013577:Syndrome