GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.
GAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, "geriatric" facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. Biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.
Wajntal
A
A
Department of Biology, University of São Paulo, Brazil.
Koiffmann
C P
CP
Mendonça
B B
BB
Epps-Quaglia
D
D
Sotto
M N
MN
Rati
P B
PB
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D002648:Child; D003240:Connective Tissue Diseases / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome