Kennerknecht Syndrome

Clinical Features

Kennerknecht et al. (1995) reported the cases of 12- and 14-year-old sisters with 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. In the elder sib, sequencing of the conserved region of the SRY gene (480000), i.e., the high mobility group (HMG) box, showed no abnormality. Kennerknecht et al. (1995) suggested that the disorder in the 2 sisters represents a new autosomal recessive syndrome.