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.
Original language | English (US) |
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Pages (from-to) | 243-248 |
Number of pages | 6 |
Journal | Clinical Dysmorphology |
Volume | 7 |
Issue number | 4 |
DOIs | |
State | Published - 1998 |
Externally published | Yes |
Keywords
- Acro-renal-ocular syndrome
- Autosomal dominant inheritance
- CNS malformations
- Ocular anomalies
- Radial defects
- Renal defects
- Upper limb abnormalities
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Anatomy
- Pathology and Forensic Medicine
- Genetics(clinical)