Multiple pterygium syndrome.
After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics