Surgical management for isolated macrodactyly in an adult PIK3CA mutant
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چکیده
منابع مشابه
development and implementation of an optimized control strategy for induction machine in an electric vehicle
in the area of automotive engineering there is a tendency to more electrification of power train. in this work control of an induction machine for the application of electric vehicle is investigated. through the changing operating point of the machine, adapting the rotor magnetization current seems to be useful to increase the machines efficiency. in the literature there are many approaches wh...
15 صفحه اولSomatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a 'nerve territory'. The classic terminology for this condition is 'lipofibromatous hamartoma of nerve' or Type I macrodactyly. The peripheral nerve, itself, is enlarged both in circumference and in length. It is not related to neurofibromatosis (...
متن کاملMacrodactyly.
We report the results of the treatment of 23 patients with macrodactyly. Eighteen had a two-stage bulk-reducing (defatting) procedure; phalangectomy was used to shorten the digits. At a mean follow-up of nine years (2 to 12), two patients had been lost to follow-up, and three await a second-stage procedure. Good cosmetic correction was achieved in 12 patients, with satisfactory results in seven...
متن کاملSomatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic scre...
متن کاملIsolated penile lymphoedema: surgical management.
1 of 2 DESCRIPTION Lymphoedema is an abnormal collection of interstitial lymph fl uid due to either congenital maldevelopment of the lymphatics or secondary obstruction. Primary penile lymphoedema is a rare occurrence. Its incidence account for approximately 1:60,000 live births. 1 Generally it involves the lower limbs, but rarely the genitalia. 2 3 We report a case of primary isolated penile l...
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ژورنال
عنوان ژورنال: JPRAS Open
سال: 2020
ISSN: 2352-5878
DOI: 10.1016/j.jpra.2020.10.002