title: [Larsen-syndrome: final diagnosis following multiple surgical interventions].
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.
authors: Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs József A. út 7. 7623 Pécsi Tudományegyetem Szentágothai Kutatóközpont Pécs.
authors: Péter
authors: P
authors: Kisfali
authors: Katalin
authors: K
authors: Komlósi
authors: Kinga
authors: K
authors: Hadzsiev
authors: Béla
authors: B
authors: Melegh
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery*; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D018389:Codon, Nonsense; D003285:Contractile Proteins / Q000235:genetics*; D005260:Female; D064448:Filamins; D016368:Frameshift Mutation; D005820:Genetic Testing; D006618:Hip Dislocation, Congenital / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D007738:Kyphosis / Q000235:genetics; D038061:Lower Extremity Deformities, Congenital / Q000235:genetics / Q000601:surgery; D008840:Microfilament Proteins / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics; D020539:Sequence Analysis, Protein
chemical_list: D018389:Codon, Nonsense; D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins