How to Cite this Article: Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM. 2013. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet Part A 161A: 619–625.
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue†
Version of Record online: 11 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 619–625, March 2013
How to Cite
Li, B. C., Hogue, J., Eilers, M., Mehrotra, P., Hyland, J., Holm, T., Prosen, T. and Slavotinek, A. M. (2013), Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am. J. Med. Genet., 161: 619–625. doi: 10.1002/ajmg.a.35792
- Issue online: 21 FEB 2013
- Version of Record online: 11 FEB 2013
- Manuscript Accepted: 13 OCT 2012
- Manuscript Received: 15 JUL 2011
- atelosteogenesis type I;
We present two patients with Atelosteogenesis Type I (AO type I) caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg. Both children had typical manifestations of AO type I, with severe rhizomelic shortening of the extremities, limited elbow and knee extension with mild webbing, pectus excavatum, broad thumbs with brachydactyly that was most marked for digits 3–5, dislocated hips and bilateral talipes equinovarus. Facial features included proptosis, hypertelorism, downslanting palpebral fissures, cleft palate, and retromicrognathia. The clinical course of one child was influenced by airway instability and bronchopulmonary dysplasia that complicated intubation and prevented separation from ventilator support. Respiratory insufficiency with tracheal hypoplasia, laryngeal stenosis, and pulmonary hypoplasia have all been described in patients with AO type I and we conclude that compromised pulmonary function is a major contributor to morbidity and mortality in this condition. © 2013 Wiley Periodicals, Inc.