Tucciarone L, Tomassini A, Colasanti A, Sabbi T, Stella P
Istituto di Clinica Pediatrica, Università degli Studi di Roma La Sapienza.
Minerva Pediatr. 1999 Jul-Aug;51(7-8):283-8.
A case of del(3) p25-pter syndrome in a four-year-old boy whose clinical manifestations were followed and studied since birth, is described. Diagnosis was made by means of karyotype analysis. The parental chromosomes were normal. So far, only about twenty cases of this syndrome have been described in living individuals. Comparison with previously reported cases confirms that the phenotype exhibits an identifiable pattern of malformation, consisting of pre- and postnatal growth delay, typical craniofacial dysmorphisms and limb abnormalities. No severe visceral anomalies were detected in this patient. Nevertheless, the follow-up revealed a progressive decay of the psychomotor and neurosensory functions.
本文描述了一名4岁男孩的del(3)p25-pter综合征病例，自出生起就对其临床表现进行了跟踪研究。通过核型分析进行诊断。父母的染色体正常。迄今为止，在世个体中仅报道了约20例该综合征病例。与先前报道的病例相比，证实该综合征的表型呈现出可识别的畸形模式，包括出生前和出生后的生长发育迟缓、典型的颅面部畸形和肢体异常。该患者未检测到严重的内脏异常。然而，随访显示其精神运动和神经感觉功能逐渐衰退。
