Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis.
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.
D000015:Abnormalities, Multiple / Q000473:pathology* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000473:pathology*; D004569:Electroencephalography; D004827:Epilepsy / Q000473:pathology*; D006801:Humans; D006869:Hydronephrosis / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009679:Nuclear Family; D013771:Tetralogy of Fallot / Q000473:pathology*