Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4 p -). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism , multi-organ involvement and seizures . Epilepsy is a major medical complication during the first years of life , with seizures typically being frequent , although they tend to improve or cease with age . We report on a woman diagnosed with WHS in her thirties by array-CGH . She presents with milder dysmorphic features , recognized by stereophotogrammetry and seizures persistent in adulthood .