Shah A M, Boby K F, Karande S C, Lahiri K R, Jain M K
Department of Paediatrics, K E M Hospital & Seth G S Medical College, Parel, Mumbai.
J Postgrad Med. 1996 Oct-Dec;42(4):123-5.
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.