polydactyly/astenia

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Polydactyly of the thumb: abnormal anatomy and treatment.

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In nine years 26 duplicated thumbs were seen in the hand clinic of a hospital for crippled children. Using a classification based on the level and degree of duplication and a knowledge of the abnormal anatomy, reconstruction was done. This surgery was done with proper skin incisions, reconstructions

Erosive rheumatoid arthritis in a young patient with mirror hand.

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Mirror hand is a congenital anomaly characterised by duplication of the ulnar ray, resulting in polydactyly and functional disability of the hand. It can cause arthralgias and weakness in intrinsic muscles of the hand. We present a young woman who had a surgically corrected mirror hand and

Fanconi anemia with incidental haemoglobin e trait: the first reported case in literature.

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Fanconi anemia (FA), commonly inherited as an autosomal recessive trait, is the commonest cause of inherited bone marrow failure syndrome often accompanied by skeletal deformities, genitourinary abnormalities and an increased risk of malignancies especially acute myeloid leukemia. Haemoglobin E

Tracheal stenting improves airway mechanics in infants with tracheobronchomalacia.

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The compliance and expiratory resistance of the tracheobronchial tree is increased in infants with tracheobronchomalacia because of a weakness in cartilaginous support of the airway. Life threatening episodes may occur in these patients due to airway collapse. The goals of this study were to compare

A case report on the bardet biedl syndrome with hypokalaemic paralysis.

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The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis. A 22 years old male patient presented with an acute onset, rapidly progressive, flaccid

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects.

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Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and

Management of thumb duplication.

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Radial polydactyly, a common congenital problem, most often occurs as thumb duplication. It appears in pentadactylous, polydactylous, and hypoplastic hands and is simulated by complex syndactyly. Classically, there are three categories for radial polydactyly: severe hypoplasia, partial duplication,

[Moebius syndrome : one case (author's transl)].

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The Moebius syndrome is a congenital anomaly characterized by paralysis of the sixth and seventh nerves. In some instances, there may be weakness of the adductors. The other muscles are normal. Visual acuity is not affected. Other congenital defects may be associated: polydactyly, defects of the ear

Limb-girdle muscular dystrophy 2H and the role of TRIM32.

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Limb-girdle muscular dystrophy (LGMD) 2H is a slowly progressive condition characterized by proximal weakness, atrophy, and mildly to moderately raised levels of creatine kinase. Facial weakness, scapular winging, hypertrophied calves, and Achilles tendon contractions are not uncommon and the age of

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