GAPO syndrome in three relatives in a Turkish kindred.
GAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue.
Sayli
B S
BS
Department of Genetics, Ankara University Medical Faculty, Türkiye.
Gül
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002648:Child; D003240:Connective Tissue Diseases / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011371:Progeria / Q000235:genetics*; D012868:Skin Abnormalities; D013577:Syndrome; D014097:Tooth, Unerupted / Q000235:genetics*