A probably distinct autosomal recessive thoraco-limb dysplasia.
A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth.
Rivera
H
H
División de Genética, Unidad de Investigación Biomédica, Jalisco, Mexico.
Perez-Salas
J M
JM
Nazara
Z
Z
Ramirez
M L
ML
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D012272:Ribs / Q000002:abnormalities; D013577:Syndrome