LETTER TO JMG

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

T W Kuijpers¹, M Ridanpää², M Peters¹, I de Boer³, J M J J Vossen³, S T Pals⁴, I Kaitila², R C M Hennekam^1,5

¹ Emma Children’s Hospital, Academic Medical Center (AMC), Amsterdam, The Netherlands
² Department of Human Genetics, University of Helsinki, Helsinki, Finland
³ Leiden University Medical Center (LUMC), Kinder-en Jeugdcentrum, Leiden, The Netherlands
⁴ Department of Pathology, AMC, Amsterdam, The Netherlands
⁵ Department of Clinical Genetics, Institute of Human Genetics, AMC, Amsterdam, The Netherlands

Correspondence to:
Correspondence to:
T W Kuijpers
Emma Children’s Hospital, Academic Medical Center (G8-205), Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; t.w.kuijpers@amc.uva.nl

Keywords: aplastic anaemia; bone marrow transplantation; cartilage-hair hypoplasia; immunodeficiency; kyphomelic dysplasia

Abbreviations: BMT, bone marrow transplantation; CHH, cartilage-hair hypoplasia; MRP, mitochondrial RNA processing

The first 150 words of the full text of this article appear below.

Kyphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of long bones, mild facial dysmorphia, and normal intelligence, with radiologically flattened vertebrae, short ribs, and metaphyseal flaring. Twenty-one cases have been reported in the literature.^1–14 However the diagnosis in several cases from the literature has been disputed. The case described by Maclean and co-workers¹⁰ was reported recently to have Schwartz-Jampel syndrome,¹⁵ and the family reported by Toledo et al⁵ in fact had osteogenesis imperfecta. This led Spranger et al¹⁵ to suggest that kyphomelic dysplasia does not exist. However, there is still a group of cases described as kyphomelic dysplasia, which do not fit the profile of these or other disorders that manifest as dwarfism and kyphomelia.¹⁶ The cases can be distinguished from campomelic dysplasia by the extraskeletal manifestations, mental retardation, ambiguous genitalia, severe tibial bowing, and hypoplastic scapulae in the latter,¹⁷ and from . . . [Full text of this article]

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• Hermanns, P., Bertuch, A. A., Bertin, T. K., Dawson, B., Schmitt, M. E., Shaw, C., Zabel, B., Lee, B. (2005). Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet 14: 3723-3740 [Abstract] [Full Text]