정신운동발달지연을 동반한 염색체이상외 다발성기형질환 9예

9 Cases of Non-chromosomal Multiple Malformation Disorders with Psychomotor Retardation

저자들은 1985년부터 1986년까지 만 2년간 본원 소아과에서 경험한 정신운동발달의 지연을 동반한 염색체질환외 다발성기형아 9예를 중심으로 이 질환에서의 진단상 문제점과 그 개선책에 대해 토의, 정리하였다.

To make better clinical diagnosis, authors reviewed 9 patients of nonchromosomal multiple malformation disorders with psychomotor retardation, who were evaluated at pediatric department of Yeungnam University hospital for recent 2 years. We could make clinical diagnosis in 5 patients out of 9 as Aarskog syndrome, Beckwith-Wiedemann syndrome, Hallermann-Streiff syndrome, Rubinstein Taybi syndrome and Weaver syndrome. But even in diagnosed cases, there were many discrepant findings in comparison with typical cases of reference literatures and family history was positive in only one case. Moreover we could not make diagnosis in 4 patients. Therefore we think it is necessary to make a survey of unique pattern, incidence, distribution and etiologic factors of malformation disorders in our country by geneticist and pediatrician as well as to improve the laboratory aids for better diagnosis and genetic counceling.