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An arthrogryposis and unusual ectodermal dysplasia/ malformation syndrome, including generalized bronchodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly the soles), dermatoglyphic abnormalities, dwarfism, bilateral cataracts, narrow palpebral fissures, and kyphoscoliosis. Other clinical features include microcephaly, brachycephaly, amyotrophy (muscle), and a high incidence of diabetes mellitus.

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Alves Syndrome; Arthrogryposis and Ectodermal Dysplasia.

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Less than twenty cases have been described since its identification in 1981 by A. Alves.

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Autosomal recessive.

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Association of ectodermal dysplasia with arthrogryposis.

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The skin is hyperkeratotic and hypohidrotic and bruises and scars easily after scratching or minor trauma. Onychodysplasia and hyperpigmented areas on the limbs may be present. Eyebrows are absent, palpebral fissures are narrow, and bilateral cataracts may occur. Craniofacial abnormalities include oligodontia, enamel hypoplasia, brachycephaly, microcephaly, and cleft lip/palate. Arthrogryposis may be marked. Other major skeletal abnormalities are kyphoscoliosis and short stature.

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Assess for airway abnormalities and poor dentition. In the presence of severe kyphoscoliosis, evaluate pulmonary function by chest radiography, lung function tests, and blood gases, as clinically indicated.

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Vascular access may be difficult because of hyperkeratotic skin and arthrogryposis. Regional anesthesia may be technically difficult because of skeletal abnormalities but is not absolutely contraindicated. Severe kyphoscoliosis with impaired lung function may be an indication for elective postoperative ventilation following major surgery.

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There are no known specific implications with this condition.

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Cote Adamopoulos Pantelakis Syndrome: Described a 16-year-girl with arthrogryposis and ectodermal dysplasia. The clinical features included the absence of nails and only one hair on the head. Diabetes mellitus was diagnosed at the age of 2 years and well controlled with insulin. At the age of 16 years she was only 120 cm tall. Arthrogryposis was most evident in the hands, but all joints seemed affected. The authors thought that the arthrogryposis, ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were unlikely to have arisen all independently.

Alves AFP, dos Santos PAB, Castelo-Branco-Neto E, et al: An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, cataract, and other manifestations. Am J Med Genet 10:213, 1981.  [PubMed: 7304669]

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