Three sibs with mild variety of osteopetrosis.
We report three sibs with mild autosomal recessive variety of osteopetrosis. The prominent clinical features were short stature, malocclusion of teeth, hepatosplenomegaly and a typical facial appearance. The only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.
Department of Paediatrics, K E M Hospital & Seth G S Medical College, Parel, Mumbai.
A M
AM
Shah
K F
KF
Boby
S C
SC
Karande
K R
KR
Lahiri
M K
MK
Jain
D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D010022:Osteopetrosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography