Document Detail

[Larsen-syndrome: final diagnosis following multiple surgical interventions].
MedLine Citation:
PMID:  23335724     Owner:  NLM     Status:  In-Data-Review    
Larsen-syndrome is a rare genetic skeletal dysplasia belonging to the group of actin-binding filamin B associated diseases. The features include congenital dislocations of the large joints, scoliosis and cervical kyphosis, short, broad, spatulate distal phalanges, and distinctive craniofacies. Diagnosis is based on clinical and radiographic findings and confirmed by molecular genetic testing. The authors have performed filamin B molecular genetic analysis since 2005 and have found several cases with unusual phenotypes since. This case report presents the diagnostic difficulties of a 30-year-old woman, who was operated several times with congenital hip dislocations and foot deformities. The craniofacial features, short, broad, spatulate fingers, scoliosis and cervical kyphosis directed diagnosis towards Larsen-syndrome and molecular genetic analysis confirmed a previously-described heterozygous missense mutation (c.G679A). They conclude that genetic analysis performed in time would prevent additional superfluous long diagnostic procedures in patients with rare diseases and would ensure adequate supportive therapy and management of the symptoms. Orv. Hetil., 2013, 154, 143-146.
Péter Kisfali; Katalin Komlósi; Kinga Hadzsiev; Béla Melegh
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Orvosi hetilap     Volume:  154     ISSN:  0030-6002     ISO Abbreviation:  Orv Hetil     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376412     Medline TA:  Orv Hetil     Country:  Hungary    
Other Details:
Languages:  hun     Pagination:  143-6     Citation Subset:  IM    
Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs József A. út 7. 7623 Pécsi Tudományegyetem Szentágothai Kutatóközpont Pécs.
Vernacular Title:
Harmincéves betegút után igazolt Larsen-szindróma.
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