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Anorectal malformations with sacral bony abnormalities.

S Nour¹, D Kumar, J A Dickson

¹Paediatric Surgical Unit, Children's Hospital, Sheffield.

Archives of Disease in Childhood

|November 1, 1989

Summary

Genetic analysis revealed autosomal dominant inheritance of anorectal malformations and sacral bony abnormalities in two families. These findings suggest a potential variant of the heterogeneous caudal regression syndrome.

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Area of Science:

Medical Genetics
Developmental Biology
Pediatric Surgery

Background:

Anorectal malformations (ARM) and sacral bony abnormalities can occur together.
The etiology of these combined anomalies is often unclear.
Familial occurrence suggests a genetic component.

Purpose of the Study:

To investigate the inheritance pattern of anorectal malformations with sacral bony abnormalities.
To determine if these conditions represent a familial variant of caudal regression syndrome.

Main Methods:

Clinical evaluation of affected individuals across three generations in two kindreds.
Detailed assessment of anorectal anomalies and sacral bony defects.
Pedigree analysis to determine inheritance patterns.

Main Results:

A spectrum of low anorectal malformations was observed in all affected individuals.
Sacral bony abnormalities included partial sacral agenesis in one family and meningomyelocele/spina bifida occulta in the second.
Autosomal dominant inheritance was evident in both families.

Conclusions:

The observed pattern suggests a genetically determined syndrome with autosomal dominant inheritance.
This condition may represent a familial variant of the etiologically heterogeneous caudal regression syndrome.
Further research is warranted to elucidate the specific genetic factors involved.

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