title: Newly recognized autosomal recessive faciothoracoskeletal syndrome.
abstract: 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.
authors.affiliation: Serviço de Genética Clínia, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: J R
authors.initials: JR
authors.lastname: Lauris
authors.forename: D M
authors.initials: DM
authors.lastname: Ferreira
mesh_terms: 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