[Congenital multiple arthrogryposis. Clinical and genetic study].
Forty six cases of arthrogryposis multiplex congenital (AMC) were studied at the Genetic Departament of the Instituto Nacional de Pediatría (México). Three were familial cases, two of them suggesting an autosomal recessive inheritance and one probably dominant. Almost half of the patients were the product of the first pregnancy. The limbs abnormalities allowed the classification of cases in: generalized AMC (54%), lower limbs (30%), upper limbs (5%) and distal (11%). The commonest associated defects were hemangioma, round face and micrognathia. It is concluded that AMC produces severe limitations and variable degree of severity. Associated defects are common and must be explored. Although the majority are sporadic cases the pedigree may show a mendelian inheritance and genetic counseling is needed.
Gallegos-Rivera
M
M
Servicio de Genética, Instituto Nacional de Pediatria, México, D.F.
Carnevale
A
A
Valdés
H
H
del Castillo
V
V
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D001176:Arthrogryposis / Q000145:classification* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype
Artrogriposis múltiple congénita. Estudio clínico y genético.