[Sex-linked inheritance in fronto-metaphyseal dysplasia].
The author reports a family study of fronto-metaphyseal dysplasia in a 2 months-old child, in his mother and maternal grand-mother. The child is the more severely affected, while the mother and the grand-mother have less severe manifestations of the syndrome. This evidence permits to confirm the X-linked recessive inheritance of the disease, with severe manifestations in males and variable expression in female carriers.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D014960:X Chromosome
Hérédité liée au sexe dans la dysplasie fronto-mètaphysaire.