Descriptive Epidemiology of Anorectal Malformations in Chinese Population

Christoph H Houben ,Kim Hung Lee,Kit Yi Kristine Pang,Yuk Him Tam,Xiangnan Feng ,Kin Wai Chan ,Wai Cheung Mou

doi:10.21699/jns.v6i4.531

Christoph H Houben , Kim Hung Lee + Show 5 more

Open Access

https://doi.org/10.21699/jns.v6i4.531

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Abstract

Over a twelve year period one hundred and five neonates (30 females) with an anorectal malformation (ARM) were studied at a tertiary referral centre in Hong Kong. A perineal fistula was the most frequent presentation of ARM in males closely followed by rectourethral fistula. Vestibular fistula was the most common anomaly amongst females. An ARM without a fistula was documented in 11 % of patients and dominated by males. Associations and syndromes were present in nearly 30 % of the group with VACTERL association and Down syndrome at the forefront. Isolated anomalies were most frequently seen in the renal tract (23 %), the CNS (20 %) and the heart (18 %). A quarter of the cohort was small for gestational age with syndromes/associations featuring in half of this subgroup. A death rate of 9.5 % was recorded, of which all except one had an underlying syndrome or association. In addition a pre-existing heart condition constituted the most significant factor affecting the mortality in 50 % of this group.

Highlights

anorectal malformation (ARM) manifests itself as an embryological anomaly of the hindgut between the 4th and 8th week of gestation
The pathogenesis is largely unknown, but it is thought the earliest defect leading to the development of an ARM is a deficiency in the dorsal component of the cloacal membrane; the severity of the ARM is related to the extent of this deficit [1]
Eleven female neonates were small for gestational age (SGA)

Summary

INTRODUCTION

ARM manifests itself as an embryological anomaly of the hindgut between the 4th and 8th week of gestation. The pathogenesis is largely unknown, but it is thought the earliest defect leading to the development of an ARM is a deficiency in the dorsal component of the cloacal membrane; the severity of the ARM is related to the extent of this deficit [1]. This study sets out to analyse the various clinical presentations and its associations / syndromes in a Chinese population

MATERIALS AND METHODS

RESULTS

DISCUSSION