Multiple pterygium syndrome.
The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases.
D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010641:Phenotype; D011625:Pterygium / Q000235:genetics*