GAPO syndrome in a child without dermal hyaline deposit.
A 5-year-old girl with GAPO syndrome from India lacked PAS-positive hyaline material in the skin biopsy from thigh and scalp. The role of this pathological change, earlier reported by Wajntal et al. [1990] in the pathogenesis of GAPO syndrome, needs to be reexamined.
Phadke
S R
SR
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Haldhar
A
A
Sharma
A K
AK
Pande
R
R
Bhatia
V
V
Agarwal
S S
SS
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000505:Alopecia / Q000209:etiology / Q000235:genetics*; D000686:Amyloidosis / Q000150:complications; D000848:Anodontia / Q000378:metabolism; D002675:Child, Preschool; D004392:Dwarfism / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D009896:Optic Atrophy / Q000235:genetics; D010375:Pedigree; D012867:Skin / Q000737:chemistry*; D013577:Syndrome; D014097:Tooth, Unerupted