Noonan syndrome

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (Impact Factor: 3.54). 08/2007; 145C(3):274-9. DOI: 10.1002/ajmg.c.30138
Source: PubMed

ABSTRACT Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

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    ABSTRACT: A 23-year-old male patient was operated for a soft tissue defect of the spine using a free musculocutaneous latissimus dorsi flap with two 21-cm long venous grafts connecting the flap to its vascular supply at the thoracodorsal vessels. This young patient suffered from Noonan's Syndrome that is a complex hereditary malformation syndrome with clinical features often leading to spinal deformities and gibbus development. The defect originated from a former internal vertebral fixation that was necessary for erective correction of such a spinal deformity. After perforation of the introduced material and debridement the defect was 4 x 8 cm in size, which was successfully closed by the free latissimus dorsi transfer. However, two venous grafts were necessary because the extension of the pedicled muscle was not sufficient to reach the defect. This is the first case in literature where a free flap was used with two venous grafts to close a soft tissue defect of the spine in the special case of a vertebral deformity based on a Noonan's Syndrome.
    Microsurgery 01/2009; 29(6):486-9. DOI:10.1002/micr.20625 · 2.42 Impact Factor


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