Article
Acro-renal-ocular syndrome: expansion of the phenotype.
Clinical dysmorphology - 1 Oct 1998
Guillén-Navarro E, Wallerstein R, Reich E, Zajac L, Ostrer H
Abstract excerpt
We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developm...
Topics
- Abnormalities, Multiple
- Adolescent
- Agenesis of Corpus Callosum
- Arm
- Child, Preschool
- Female
- Genes, Dominant
- Humans
- Kidney
- Male
- Phenotype
- Strabismus
- Syndrome
