Document Detail

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
MedLine Citation:
PMID:  23401428     Owner:  NLM     Status:  MEDLINE    
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.
Ben C Li; Jacob Hogue; Meg Eilers; Pavni Mehrotra; James Hyland; Tara Holm; Tracy Prosen; Anne M Slavotinek
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-02-11
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  161A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-25     Completed Date:  2013-08-05     Revised Date:  2013-09-27    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  619-25     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Division of Genetics, Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA.
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MeSH Terms
Contractile Proteins / genetics*
Fatal Outcome
Infant, Newborn
Microfilament Proteins / genetics*
Mutation, Missense*
Osteochondrodysplasias / genetics,  radiography*,  ultrasonography
Premature Birth
Ultrasonography, Prenatal
Reg. No./Substance:
0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins

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