title: Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
abstract: We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.
authors.affiliation: Serviço de Genética, Hospital Infantil Darcy Vargas, São Paulo, Brazil.
authors.forename: R de C
authors.initials: Rde C
authors.lastname: dos Santos
authors.forename: N H
authors.initials: NH
authors.lastname: Castro
authors.forename: O P
authors.initials: OP
authors.lastname: Ferraz
authors.forename: J
authors.initials: J
authors.lastname: Walter-Moura
authors.forename: Z
authors.initials: Z
authors.lastname: Mustachi
authors.forename: N A
authors.initials: NA
authors.lastname: Pagnan
authors.forename: T R
authors.initials: TR
authors.lastname: Gollop
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome