We report on three female patients with severe psychomotor delay and absence of expressive language, associated, in two, with epileptic fits. The phenotypic aspect of all was suggestive of Wolf-Hirschhorn syndrome (WHS). Previous standard chromosome analyses had shown a normal female complement. We repeated such studies which, in one patient, promptly confirmed the clinical diagnosis, whereas in the other two gave «false negative» results. In view of our strong clinical suspicion of WHS, we carried out, in the other two patients, high resolution banding chromosome analyses which showed a questionable 4p deletion. Eventually, the clinical diagnosis was confirmed by molecular studies (FISH). We wish to stress the difficulty encountered in confirming the diagnosis of such cases, to alert clinicians and make them cognizant of the need to pursue high resolution chromosome studies and, particularly, molecular studies in suspect WHS cases. In addition it is worth noting that two of our patients were able to walk unsupported, contrary to what conventionally stated in literature; and that one patient had bilateral sensorineural deafness, a finding as yet undescribed in WHS.
|Translated title of the contribution||Wolf-Hirschhorn syndrome (4p-): A cause of severe mental retardation of difficult diagnosis|
|Number of pages||6|
|Journal||Rivista Italiana di Pediatria|
|Publication status||Published - Apr 1997|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health