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The Baller-Gerold syndrome.

L Van Maldergem¹, A Verloes, L Lejeune

¹Centre de Génétique Humaine, Institut de Morphologie Pathologique, Gerpinnes (Loverval), Belgium.

Journal of Medical Genetics

|April 1, 1992

Summary

Baller-Gerold syndrome, a severe craniosynostosis-radial aplasia condition, was observed in a newborn male. The case highlights the syndrome

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Area of Science:

Medical Genetics
Developmental Biology
Pediatric Pathology

Background:

Baller-Gerold syndrome is a rare genetic disorder characterized by craniosynostosis and radial bone hypoplasia.
This case report details a severe presentation in a neonate.

Observation:

The pregnancy was complicated by polyhydramnios and intrauterine growth retardation.
The newborn exhibited severe craniosynostosis with agenesis of frontal and parietal bones, bilateral radial aplasia, oligodactyly, midline facial angioma, and a scrotally positioned anus.
Additional findings included microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy.

Findings:

The neonate presented with extensive craniofacial abnormalities and limb malformations consistent with Baller-Gerold syndrome.
The necropsy revealed significant agenesis of skull bones and bilateral radial aplasia, alongside other characteristic features.
The infant experienced a fatal apnoeic spell shortly after birth.

Implications:

This case expands the phenotypic spectrum of Baller-Gerold syndrome.
It underscores the critical need for early diagnosis and genetic counseling for affected families.
Further research into the molecular mechanisms underlying this syndrome is warranted.

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