The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant.
We report on an additional patient with the severe autosomal recessive form of the popliteal pterygium syndrome. The patient was diagnosed at birth and had all of the phenotypic manifestations of this rare syndrome. Clinical findings and natural history suggest this is a distinct genetic entity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities; D013577:Syndrome