Acromesomelic dysplasia in a father and son: autosomal dominant inheritance.
A father and son with typical acromesomelic dysplasia are reported, with the father more severely affected than the son. The disease was thus apparently transmitted in an autosomal dominant fashion. This is at variance with the autosomal recessive mode of inheritance assumed from hitherto reported families.
Ohba
K
K
Ohdo
S
S
Sonoda
T
T
Madokoro
H
H
D000328:Adult; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male