Ghosal haemato-diaphyseal dysplasia: a new disorder.
We describe two siblings, products of a first cousin marriage, with diaphyseal dysplasia, severe anaemia, leukopenia, and thrombocytopenia. Radiologically, both had wide medullary cavities with discrete cortical hyperosthosis. Bone marrow was hypocellular. These, and six similar cases in the literature [6], suggest that they represent a form of diaphyseal dysplasia differing from Camurati-Engelmann disease by their radiological appearance, associated haematological abnormalities and autosomal recessive inheritance.
Gümrük
F
F
Department of Paediatrics, Hacettepe University, Ankara, Turkey.
Besim
A
A
Altay
C
C
D000740:Anemia / Q000150:complications; D003966:Camurati-Engelmann Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007970:Leukopenia / Q000150:complications; D008297:Male; D011239:Prednisolone / Q000627:therapeutic use; D011859:Radiography; D013921:Thrombocytopenia / Q000150:complications
D011239:Prednisolone