Summary
In three different families two phenotypic sisters were described with a rare association of malformations. In four of these 6 cases, a girl had a 46,XY karyotype. In the first family the 2 girls had similar internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex cardiac malformation, and diaphragmatic hernia or omphalocele (each in 1 sib only). It was suggested that the disorder be called PAGOD syndrome for pulmonary hypoplasia,/hypoplasia of the pulmonary artery, agonadism, omphalocele/ diaphragmatic defect, and dextrocardia. In the second family, two sisters were described again, one 46,XX with normal female phenotype, the other 46,XY with ambiguous external genitalia and agonadism. Both have a low birth weight and microcephalic malformation syndrome leading to early death. The 46,XX patient also had a diaphragmatic defect. The XY sister, in addition to absence of gonads and Mullerian and Wolffian derivatives, had severe hypoplasia of the pulmonary artery and its branches, multicystic kidneys, and pachygyria. In the third family, sisters had a 46,XY chromosome constitution, normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis, and malrotation of the colon in the older sister, internal organs were normal. Both were mentally retarded and of short stature, with markedly retarded bone age. They had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, 'dysplastic' hips, and partial clino-/syndactyly of the toes. The parents were related as first cousins. Although these families are not identical, it is likely that in the three of them exists a similar autosomal recessive condition. The different sex chromosome status excludes the Y chromosome as the responsible factor, if the unicity of this syndrome will be demonstrated. The minimum criteria would be agonadism, hypoplastic right heart structures, with or without omphalocele or dextrocardia. * Author: Dr E. Robert-Gnansia (October 2004)*.
