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Walker-Warburg syndrome with cleft lip and cleft palate in two sibs
American Journal of Medical Genetics
|July 1, 1987
Insights
Walker-Warburg syndrome, a rare neurological disorder, was observed in two siblings presenting with hydrocephalus, agyria, and encephalocele. This report highlights previously unnoted features including cleft lip, palate, and intrauterine growth retardation in affected individuals.
Area of Science:
- Neuroscience
- Medical Genetics
- Developmental Biology
Background:
- Walker-Warburg syndrome (WWS) is a severe congenital muscular dystrophy-dystroglycanopathy.
- It is characterized by a triad of cobblestone lissencephaly,}${\displaystyle \text{}}$ pontocerebellar hypoplasia, and ocular anomalies.
Observation:
- This study reports on two siblings diagnosed with Walker-Warburg syndrome.
- The affected siblings presented with hydrocephalus, agyria (absence of cerebral gyri), anterior chamber dysgenesis, and encephalocele.
Findings:
- The siblings exhibited additional congenital anomalies not previously documented in Walker-Warburg syndrome.
- These included cleft lip, cleft palate, and intrauterine growth retardation.
Implications:
- These findings expand the phenotypic spectrum of Walker-Warburg syndrome.
- Recognizing these additional features is crucial for accurate diagnosis and genetic counseling in families with WWS.
- Further research is warranted to understand the genetic basis of these extended WWS manifestations.
Abstract:
Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.