deceased at March 19, 2010.
Article first published online: 9 SEP 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, pages 2521–2528, October 2011
How to Cite
Suzuki, S., Kim, O.-H., Makita, Y., Saito, T., Lim, G.-Y., Cho, T.-J., Al-Swaid, A., Alrasheed, S., Sadoon, E., Miyazaki, O., Nishina, S., Superti-Furga, A., Unger, S., Fujieda, K., Ikegawa, S. and Nishimura, G. (2011), Axial spondylometaphyseal dysplasia: Additional reports. Am. J. Med. Genet., 155: 2521–2528. doi: 10.1002/ajmg.a.34192
How to Cite this Article: Suzuki S, Kim O-H, Makita Y, Saito T, Lim G-Y, Cho T-J, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. 2011. Axial spondylometaphyseal dysplasia: Additional reports. Am J Med Genet Part A 155:2521–2528.
Shigeru Suzuki and Ok-Hwa Kim contributed equally to this work.
- Issue published online: 20 SEP 2011
- Article first published online: 9 SEP 2011
- Manuscript Accepted: 8 JUN 2011
- Manuscript Received: 31 MAR 2011
- Research on Child Health and Development
- Ministry of Health, Labor and Welfare of Japan
- bone dysplasia;
- axial spondylometaphyseal dysplasia;
- retinitis pigmentosa
Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943–968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550–1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance. © 2011 Wiley-Liss, Inc.