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Possible third case of Lin-Gettig syndrome
Peter Hedera1, Jeffrey W Innis
1Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA.
American Journal of Medical Genetics
|July 13, 2002
Summary
This report details a third patient with Lin-Gettig syndrome, presenting with craniosynostosis and severe developmental delays. The case expands the known phenotype, including palatal cleft and absent rapid eye movement (REM) sleep.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Lin-Gettig syndrome is a rare genetic disorder.
- Characterized by a specific set of congenital anomalies.
- Previous cases established key diagnostic features.
Observation:
- A patient presented with craniosynostosis, severe mental retardation, absent corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect.
- Additional features included palatal cleft and absent rapid eye movement (REM) sleep.
- Genetic testing, including high-resolution karyotype and subtelomeric FISH, revealed no cryptic telomeric rearrangement.
Findings:
- The patient exhibits a phenotype consistent with Lin-Gettig syndrome, representing the third reported case.
- The presence of palatal cleft and absent REM sleep expands the known clinical spectrum of the syndrome.
- Normal genetic testing in the presence of distinct clinical features supports Lin-Gettig syndrome as a separate entity.
Implications:
- This case broadens the understanding of Lin-Gettig syndrome's phenotypic variability.
- Highlights the importance of recognizing Lin-Gettig syndrome as a distinct clinical entity.
- Further research may elucidate the underlying genetic cause and pathogenic mechanisms.