AGANGLIONOSIS - ASSOCIATED ANOMALIES

被引：18

作者：

CASS, D

机构：

[1] Paediatric Surgical Unit, Department of Paediatrics, Westmead Hospital, New South Wales

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 1990年 / 26卷 / 06期

关键词：

AGANGLIONOSIS; HIRSCHSPRUNGS DISEASE; HYPOPIGMENTATION; MULLERIAN INHIBITORY SUBSTANCE DEFICIENCY; PERSISTENT MULLERIAN DUCT SYNDROME; SMITH-LEMLI-OPITZ SYNDROME TYPE II; SUPERNUMERARY DIGITS; TRISOMY; 21;

D O I：

10.1111/j.1440-1754.1990.tb02451.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In a series of 21 patients with aganglionosis there were five with associated anomalies (24%). These included trisomy 21, Smith-Lemli-Opitz syndrome type II, persistent Mullerian duct syndrome, supernumerary digits and segmental hypopigmentation. This high incidence may be due to sample bias, but clinicians are encouraged to carefully follow their aganglionic patients as there may be under-reporting of associated anomalies. Knowledge of these anomalies can help in the management of individual patients and subsequent pregnancies. In addition these diverse associated anomalies suggest that as well as sometimes being part of a vagal neural crest deficiency, aganglionosis can be part of a generalized mesenchymal defect in embryonic development. There are probably several genes involved.

引用

页码：351 / 354

页数：4