Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
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.
dos Santos
R de C
Rde C
Serviço de Genética, Hospital Infantil Darcy Vargas, São Paulo, Brazil.
Castro
N H
NH
Ferraz
O P
OP
Walter-Moura
J
J
Mustachi
Z
Z
Pagnan
N A
NA
Gollop
T R
TR
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