Article
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.
Ophthalmic paediatrics and genetics - 1 Mar 1990
Kozma C, Hunt M, Meck J, Traboulsi E, Scribanu N
Abstract excerpt
The authors report the case of a male infant who presented with growth retardation and multiple congenital anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge. Eye examination revealed Rieger anomaly, nasolacrimal duct obstruction and mild microphthalmia bilaterally. In addition, shawl scrotum, nail hypoplasia and linear skin hypoplasia of the lower extremities were noted....
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 4
- Eye Abnormalities
- Humans
- Infant
- Iris
- Male
- Pedigree
- Phenotype
- Syndrome
- Translocation, Genetic