How to Cite this Article: Kwan A, Manning MA, Zollars LK, Hoyme HE. 2012. Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature. Am J Med Genet Part A 158A: 2911–2916.
Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature†
Article first published online: 14 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2911–2916, November 2012
How to Cite
Kwan, A., Manning, M.A., Zollars, L. K. and Hoyme, H. E. (2012), Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature. Am. J. Med. Genet., 158A: 2911–2916. doi: 10.1002/ajmg.a.35604
- Issue published online: 17 OCT 2012
- Article first published online: 14 SEP 2012
- Manuscript Accepted: 7 JUL 2012
- Manuscript Received: 21 JUL 2011
- cartilage-hair hypoplasia;
- skeletal dysplasia
Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. Short, thick long bones, metaphyseal flaring and irregularities, and globular epiphyses at the knees and ankles are the typical radiographic findings. The diagnosis is primarily made on the basis of clinical features, although mutations in the RMRP gene have recently been described in affected individuals, facilitating confirmation of the clinical diagnosis in atypical patients. We present a patient with two RMRP mutations whose stature and ectodermal features supported the diagnosis of CHH, but whose radiographic findings and other extraskeletal findings did not. We propose that the most consistent and reliable features of CHH are short stature of prenatal onset and ectodermal dysplasia, and suggest that the diagnosis of CHH be considered and mutation analysis pursued even when typical radiographic findings are absent. © 2012 Wiley Periodicals, Inc.