Format

Send to:

Choose Destination
See comment in PubMed Commons below
Orv Hetil. 2013 Jan 27;154(4):143-6. doi: 10.1556/OH.2013.29534.

[Larsen-syndrome: final diagnosis following multiple surgical interventions].

[Article in Hungarian]

Author information

  • 1Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs József A. út 7. 7623 Pécsi Tudományegyetem Szentágothai Kutatóközpont Pécs.

Abstract

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.

PMID:
23335724
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Write to the Help Desk