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.
Alves Syndrome; Arthrogryposis and Ectodermal Dysplasia.
Less than twenty cases have been described since its
identification in 1981 by A. Alves.
Association of ectodermal dysplasia with arthrogryposis.
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
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
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.
There are no known specific
implications with this condition.
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