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A case of the Holt-Oram Syndrome which was Prenatal Diagnosed by Ultrasonography in Affected Mother / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology ; : 446-449, 2003.
Article in Korean | WPRIM | ID: wpr-50423
ABSTRACT
The Holt-Oram syndrome or cardiomelic syndrome is characterized by the association of upper limb and heart malformations. Most frequently, abnormalities of the thumb and secundum atrial septal defects are associated with the disease. The mode of inheritance is autosomal dominant. The etiology of this disease is unknown but is most likely of multifactorial origin. Here we report a case Holt-Oram syndrome with affected mother which was diagnosed at 18th gestational weeks by prenatal ultrasonograpy. Fetal ultrasonography revealed abnormalities of upper limbs, and heart. The upper limbs were shorter than normal, syndactyly of both hands were seen and both wrists were markedly angulated. Ventricular septal defect was suspicious. After genetic counselling her pregnancy was terminated at 22nd gestational week.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Thumb / Wills / Wrist / Ultrasonography, Prenatal / Ultrasonography / Syndactyly / Upper Extremity / Hand / Heart / Heart Septal Defects, Atrial Type of study: Diagnostic study Limits: Humans / Pregnancy Language: Korean Journal: Korean Journal of Obstetrics and Gynecology Year: 2003 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Thumb / Wills / Wrist / Ultrasonography, Prenatal / Ultrasonography / Syndactyly / Upper Extremity / Hand / Heart / Heart Septal Defects, Atrial Type of study: Diagnostic study Limits: Humans / Pregnancy Language: Korean Journal: Korean Journal of Obstetrics and Gynecology Year: 2003 Type: Article