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Skeletal dysplasia with unusual visceral manifestations

Development Disorders Clinic, Department of Pediatrics, LTM Medical College and LTMG Hospital, Sion, Bombay 400 022, India

Correspondence to:
Correspondence to:
Dr Karande;
karandesunil@yahoo.com

Submitted 20 April 2001
Accepted 3 July 2001

Keywords: pycnodysostosis; splenomegaly; osteopetrosis tarda; papillo-oedema

A boy aged 4.5 years, born of a third degree consanguineous marriage, presented with short stature, a lump on the left side of the abdomen that had been seen since he was 7 months of age, and noisy breathing on and off for the past two years. There was no history of jaundice, fever, bleeding from any site, blood transfusion, or fractures. The birth history and milestones were normal. His two siblings were normal.

On examination, the child was grossly stunted. The height was 78 cm, weight 10 kg, and the head circumference 48 cm. The height and weight were markedly below the fifth percentile. The upper segment: lower segment ratio was 1.34:1 indicating proportionate short stature. There was marked pallor but no icterus, oedema, petechiae, or significant lymphadenopathy. There was marked frontoparietal bossing, the sutures were wide open, the anterior fontanelle measured 12 x 12 cm and . . . [Full text of this article]