Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples, abnormalities of methaphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory distress, platyspondyly, and facial dysceptism with micrognathia, midfacial hypoplasia, and a broad nasal bridge. Some children die in early infancy. The survivors show normal hands, feet, cranium and psychomotor development. The condition varies in severity. The facial features and bowing improve during childhood, and stature remains short during adulthood. We report here a family with KD inherited as an autosomal dominant trait, which appears to be less severe than the autosomal recessive form, without facial and vertebral a favorable outcome and with involvement and final short stature.
Toledo
C
C
Unitad de Investigación, Hospital Ntra Sra de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain.
Navarro-Barros
R
R
Alba
L
L
Muñoz
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D000130:Achondroplasia / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree