Iridogoniodysgenesis And Skeletal Anomalies

Clinical Features

Garcia-Cruz et al. (1990) reported 3 sisters, born of nonconsanguineous parents, with congenital glaucoma, distinctive facies (large eyes, wide forehead, thin nasal bridge, and broad nose with large tip), large ears, short neck, wide thorax, umbilicated nipples, cubitus valgus, and short big toes. Radiologic examination revealed mild skeletal anomalies characterized by slender long bones with wide metaphyses and thin cortices, cuboid-shaped vertebral bodies, enlarged transverse apophysis of the seventh vertebral body, narrowed vertebral canal and decreased interpedicular distance at the lumbar segments, and generalized osteopenia. Ophthalmologic examination was suggestive of iridogoniodysgenesis, but presurgical gonioscopic data were not available. There was no family history of glaucoma or any other ophthalmologic disorder. Garcia-Cruz et al. (1990) suggested that the disorder represented a newly recognized congenital glaucoma syndrome with possible autosomal recessive inheritance.

Rodriguez-Rojas et al. (2004) described a sister and 2 brothers with congenital glaucoma, skeletal anomalies, and a peculiar facial appearance whose clinical and radiologic features were identical to those of the 3 sisters reported by Garcia-Cruz et al. (1990), except for the absence of large ears and cubitus valgus, and the presence of undeveloped frontal sinuses. Ophthalmologic examination in the proposita revealed megalocornea, wide anterior chambers, concave iris with stromal atrophy, and nasal corectopia in both eyes with no evidence of posterior embryotoxon, associated with congenital glaucoma. Radiologic and ophthalmologic examination including gonioscopy in the healthy, nonconsanguineous parents and 2 unaffected sibs were normal. There was no family history of glaucoma or other ophthalmologic anomalies. Rodriguez-Rojas et al. (2004) concluded that these 2 families had a distinct iridogoniodysgenesis syndrome with probable autosomal recessive inheritance.