Popescu D E, Marian D, Zeleniuc M, Samoila Ch, Belengeanu V
Department of Obstetrics-Gynecology and Neonatology, "Victor Babeș" University of Medicine and Pharmacy, Timișoara, Romania.
Department of Neonatology, Première Hospital Timișoara - "Regina Maria" Health Network, Timișoara, Romania.
Balkan J Med Genet. 2023 Jul 31;26(1):75-82. doi: 10.2478/bjmg-2023-0006. eCollection 2023 Jul.
Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.
沃尔夫-赫希霍恩综合征是一种由4号染色体短臂末端大小可变的缺失引起的罕见病症。该综合征表现出典型的面部形态变异、智力残疾、语言发育迟缓以及各种畸形的综合症状。本报告描述了一名患有沃尔夫-赫希霍恩综合征的男性患者从婴儿期到青春期的临床情况和发育演变。该患者在11个月时首次接受检查并被诊断，随后在4岁和16岁时进行了随访。
