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Acro-renal-ocular syndrome: expansion of the phenotype
E Guillén-Navarro1, R Wallerstein, E Reich
1Department of Pediatrics, New York University Medical Center, NY 10016, USA.
Insights
Acro-renal-ocular syndrome, a rare genetic disorder, was identified in a family. New central nervous system (CNS) malformations were observed, expanding the known symptoms of this condition.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Acro-renal-ocular syndrome is a rare genetic disorder characterized by limb, kidney, and eye abnormalities.
- Previous descriptions of the syndrome have not included central nervous system (CNS) malformations.
Observation:
- The sixth reported family with acro-renal-ocular syndrome was identified, affecting a mother and her son.
- The affected child presented with severe upper limb deficiency, dysplastic kidneys, and strabismus.
Findings:
- Developmental delay, dysplastic corpus callosum, and incomplete myelination were observed in the affected child.
- These central nervous system (CNS) findings represent a potential expansion of the acro-renal-ocular syndrome phenotype.
Implications:
- This case expands the known clinical spectrum of acro-renal-ocular syndrome.
- Further research is needed to understand the genetic basis and full phenotypic variability of this syndrome.
Abstract:
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. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.