[Complex bone abnormalities with fatal outcome: a new familial syndrome].
A new lethal disorder affecting two brothers is described. The features were curvature of the long bones, multiple fractures, dysmorphic facies, syndactyly and absence of ossification in the cranial vault. The condition could be inherited as an autosomal recessive or sex linked condition.
D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003937:Diagnosis, Differential; D005269:Femur / Q000002:abnormalities; D005360:Fibula / Q000002:abnormalities; D005598:Fractures, Spontaneous / Q000150:complications; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities; D013576:Syndactyly / Q000150:complications; D013977:Tibia / Q000002:abnormalities
Malformations osseuses complexes d'évolution létale. Un nouveau syndrome a caractère familial.