Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously

Histiocytosis in children: Five years experience at a tertiary care hospital

Histocytosis is a diverse group of illness of monocyte- macrophage cell lineage. Diagnostic criteria and management protocols are not precisely defined due to cases. Study was conducted to review the clinical features at admission and outcome of histiocytosis following chemotherapy [DALHAX 83 protocol was used]. It was a retrospective study, carried out from March 2000 to February 2005, at department of hematology- oncology, The Children's Hospital and the Institute of Child Health, Lahore. From 01-03-2000 to 28-02-2005, total 36 cases with histocytosis disorders were admitted. It comprises 2% of total admissions, class 1 langerhan cell disease was the most common [24/36], followed by class II [8/36] and class III [4/36] cases among this group of illness. Fever and hepatosplenomegaly was present in all classes. Soft tissue swelling, jaundice and lymphadneopathy were also seen in class I, II and III histiocytosis respectively. Nineteen patients died/ left treatment and absconded with incomplete treatment. Seventeen patients responded to chemotherapy again. Histiocytosis class I is a chemosensitive disease. If the functional deterioration of the involved organ has not set in, class I disease has good prognosis