정신운동발달지연을 동반한 염색체이상외 다발성기형질환 9예
9 Cases of Non-chromosomal Multiple Malformation Disorders with Psychomotor Retardation
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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, BeckwithWiedemann 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 counseling.
Abstract
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, BeckwithWiedemann 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 counseling.