Reichenbach H, Meister E M, Theile H
Abteilung Humangenetik, Universität Leipzig.
Kinderarztl Prax. 1992 Apr;60(2):54-6.
A male infant was born at the 36th week of gestation by cesarean section because of an intrauterine bradycardy. There was a 2nd degree a. v.-bloc postnatal. The heart rate was normal after the 5th day of life with a QT-interval of 150 percent resp. 120 percent after the 15th day. Additionally there were syndactylies of hands and feet. The infant suddenly died at the age of 5 months. Examination of the parents revealed a QT-interval of 115 percent as well as synostoses of the carpus in the father. These microsymptoms are very important for genetic counseling of the family. There is a recurrence risk of 50 percent for further children because a dominant trait is to be suggested.
一名男婴因宫内心动过缓于妊娠36周时剖宫产出生。出生后存在二度房室传导阻滞。出生后第5天心率恢复正常,QT间期为正常的150%,出生后第15天为120%。此外,患儿存在手足并指(趾)畸形。该婴儿在5个月大时突然死亡。对其父母的检查发现父亲的QT间期为正常的115%,且有腕骨融合。这些微小症状对该家庭的遗传咨询非常重要。由于提示为显性性状,所以其下一胎子女的复发风险为50%。