Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and
1Department of Human Genetics, Newcastle upon Tyne, UK. mdakh@cc.newcastle.edu.au
Clinical Dysmorphology
|May 18, 1999
Abstract:
We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder.
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