Battin J, Channarond J, Génaudeau J, Ruffié M
Arch Fr Pediatr. 1977 Nov;34(9):876-81.
The phenotype of the 4 p-- syndrome may be clinically distinguished from the one of the 5 p-- syndrome by the presence of fusion abnormalities of the median line. In the case reported, these abnormalities concerned a cleft palate, an iris coloboma and a fistula of the sacrum, in addition to an important hypotrophy and a severe mental retardation associated with epilepsy.
4p-综合征的表型在临床上可通过中线融合异常与5p-综合征相区分。在报告的病例中,这些异常包括腭裂、虹膜缺损和骶骨瘘管,此外还有严重发育不全以及与癫痫相关的严重智力迟钝。