Abstract
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.
Similar content being viewed by others
References
Allen DT (1970) Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia. Pediatrics 46:523–531
Camurati M (1922) Di un raro caso di osteite simmetrica ereditaria degliarti infreriori. Chir Organi Mov 6:662–665
Cockayne E (1920) Case for diagnosis. Proc Soc Med (Child Sect) 13:132–136
Crisp AJ, Brenton DP (1982) Engelmann's disease of bone: a systemic disorder? Ann Rheum Dis 41:183–188
Engelmann G (1929) Ein Fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Roentgenstr 39: 1101–1106
Ghosal SP, Mukherjee AK, Mukherjee D (1988) Diaphyseal dysplasia associated with anemia. J Pediatr 113:49–57
Hundley JD, Wilson FC (1973) Progressive diaphyseal dysplasia. J Bone Joint Surg [Am] 55:461–474
Lennon EA (1961) Engelmann's disease. Report of a case with review of the literature. J Bone Joint Surg 43B:273–284
Özsoylu S (1989) High dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia. J Pediatr 114:904
Sparkes RH, Graham BC (1972) Camurati-Engelmann Disease. Genetics and clinical manifestations with a review of the literature. J Med Genet 9:73–85
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gümrük, F., Besim, A. & Altay, C. Ghosal haemato-diaphyseal dysplasia: A new disorder. Eur J Pediatr 152, 218–221 (1993). https://doi.org/10.1007/BF01956148
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01956148