Hardwick R J, Onikul E, De Silva M, Glasson M J, Gaskin K J
Royal Alexandra Hospital for Children, Camperdown, NSW, Australia.
J Paediatr Child Health. 1992 Aug;28(4):328-30. doi: 10.1111/j.1440-1754.1992.tb02680.x.
Seven first degree relatives in three generations of a family with partial sacral agenesis are reported. Anterior sacral meningoceles were found in five cases, four of whom had severe constipation, one with urinary voiding dysfunction, and another without constipation who had low pressure headaches and dyspareunia. The anomalad was transmitted in an autosomal dominant fashion with incomplete penetrance and variable expression. This entity should be considered in all children and adults with severe constipation from birth, a family history of constipation and/or where constipation is refractory to medical therapy.
本文报道了一个患有部分骶骨发育不全的家族三代中的7名一级亲属。5例发现有骶前脊膜膨出，其中4例有严重便秘，1例有排尿功能障碍，另1例无便秘但有低压性头痛和性交困难。该异常以常染色体显性方式传递，具有不完全外显率和可变表达。对于所有自出生就有严重便秘、有便秘家族史和/或便秘对药物治疗无效的儿童和成人，均应考虑这一病症。
