Casseler F, Radovich F, Guidetti F
Divisione di Chirurgia Maxillo-Facciale ed Odontostomatologia, Istituto per l'Infanzia di Trieste.
Minerva Stomatol. 1991 Jul-Aug;40(7-8):515-20.
Following an introductory illustration of the clinical characteristics of the 18q syndrome (De Grouchy syndrome), the paper describes the treatment carried out in a young patient with harelip and cleft palate in addition to chromosomopathy. Although the facial malformation and the karyotype with the deletion of a portion of the long arm of chromosome 18 were diagnosed in utero, the parents, having been correctly informed of the mental retardation usually associated with this syndrome and the possibility of surgical correction of the facial malformation, decided not to abort. The case offers an occasion for analysing the various stages and results obtained to date using a multi-specialised diagnostic approach and functional and surgical treatment of the harelip and cleft palate which have enabled much of the congenital handicap to be corrected.
在对18q综合征（德格鲁希综合征）的临床特征进行初步说明之后，本文描述了对一名除染色体病外还患有唇裂和腭裂的年轻患者所进行的治疗。尽管在子宫内就诊断出了面部畸形以及18号染色体长臂部分缺失的核型，但父母在正确了解到通常与该综合征相关的智力迟钝以及面部畸形的手术矫正可能性后，决定不终止妊娠。该病例为分析迄今为止使用多专业诊断方法以及唇裂和腭裂的功能及手术治疗所取得的各个阶段和结果提供了契机，这些治疗已使大部分先天性残疾得到了矫正。
