Moretti P, Ferrari M, Di Battista S, Di Battista C
Unità Materno-Infantile, Ospedale Civile G. Mazzini, Teramo, Università degli Studi, L Aquila, Italy.
Minerva Pediatr. 2001 Feb;53(1):23-8.
The microdeletion 4p16 has been found in two rare syndromes. Until now they were considered as two different syndromes: the Wolf-Hirschhorn syndrome (WHS) and the Pitt-Rogers-Danks (PRDS) syndrome characterized by a growth retardation before and after birth, microcrania, seizures, characteristic face with thin mouth, maxillary hypoplasia, short and large philtrum, characteristic nose and mental retardation. A case with 4p-16 microdeletion with phenotype characteristics similar to PRDS is reported. The patients described as PRDS are sometimes less seriously affected than patients with WHS. In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part.
4p16微缺失已在两种罕见综合征中被发现。到目前为止，它们被认为是两种不同的综合征：沃尔夫-赫希霍恩综合征（WHS）和皮特-罗杰斯-丹克斯（PRDS）综合征，其特征为出生前后生长发育迟缓、小头畸形、癫痫发作、面部特征为薄唇、上颌骨发育不全、人中短而宽、典型鼻型以及智力障碍。本文报告了一例具有与PRDS相似表型特征的4p-16微缺失病例。被描述为PRDS的患者有时病情不如WHS患者严重。事实上，未发现一岁内死亡病例，内脏畸形较少见，且面部没有典型的希腊战士头盔样外观。最近的研究表明，WSS和PRDS是由于相似（即便不是相同）基因片段的缺失所致，观察到的临床差异可能是剩余同源部分等位基因变异的结果。
