Naslov
Loeys-Deitz Syndrome

Autori
Vlaić, Josip ; Bojić, Davor ; Antičević, Darko ; Dumić, Miroslav

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Knjiga sažetaka i Program VI Hrvatski kongres Humane Genetike s medjunarodnim sudjelovanjem / Barišić, Ingeborg - Zagreb : Hrvatsko društvo za humanu genetiku, 2015, 79-79

Skup
VI. Hrvatski kongres humane genetike s medjunarodnim sudjelovanjem

Mjesto i datum
Split, Hrvatska, 05.11.2015. - 07.11.2015

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
Loeys-Deitz syndrome ; child ; orthopedic management

Sažetak
Introduction. Loeys-Dietz syndrome, is an autosomal-dominant connective tissue disorder caused by mutations in the transforming growth factor-beta receptor 1 or 2 genes. The syndrome, described in 2005, is characterized by a triad of aggressive aneurysm, hypertelorism, and bifid uvula or cleft palate. Most of musculoskeletal findings described in syndrome we observed in our patient. Genetic conformation of diagnosis is in progress. Aims. Our goal was to report manifestations, conservative and surgical treatment, complications and final results after eight years of follow up in 14 year old girl with clinically described Loeys-Dietz syndrome. Methods. As a newborn, girl was treated conservative with series plaster casts for left knee dislocation. Both feet were treated with physical therapy because of equinovarus position. In 4 months of age left hip was found to be dysplastic and was treated with series plaster casts in safe position. With 5 years of age she went for first surgery, temporal epiphysiodesis of distal medial femur and proximal medial tibia for correction of bilateral genua valga. Results. In last follow up visit we have observed complete correction of dislocated left hip and knee and her lower leg axis were corrected completely and are in physiological position. Developed scoliosis is treated with orthotics and surgery was scheduled. Conclusion. Recognition of the features of Loeys-Dietz syndrome may facilitate early diagnosis. Although it is difficult to recognise Loeys-Dietz syndrome in a newborn, we can conclude that our approach to musculoskeletal deformities was successful. We were able to satisfactory correct all major deformities in lower extremities.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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