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The 4p- syndrome--an autopsy study

B J Fernandes, H A Gardner, Y C Bedard

Human Pathology

|November 1, 1980

Summary

Autopsy revealed previously undescribed visceral abnormalities, including gallbladder and spleen agenesis, in an infant with Wolf-Hirschhorn syndrome. These findings expand the known spectrum of this genetic disorder.

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Area of Science:

Genetics
Developmental Biology
Pathology

Background:

Wolf-Hirschhorn syndrome (4p-) is a rare genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability.
Previous studies have documented various congenital anomalies associated with Wolf-Hirschhorn syndrome.
However, the full spectrum of visceral abnormalities remains incompletely understood.

Observation:

An autopsy was performed on an infant diagnosed with Wolf-Hirschhorn syndrome.
During the autopsy, specific visceral abnormalities were noted.
These abnormalities included the agenesis (congenital absence) of the gallbladder and spleen.

Findings:

The observed agenesis of the gallbladder and spleen in this case represents a previously undescribed visceral abnormality in Wolf-Hirschhorn syndrome.
The parents of the infant presented with normal chromosomal karyotypes, suggesting a de novo mutation or a complex genetic mechanism.
This case highlights the potential for significant variability in phenotypic expression within Wolf-Hirschhorn syndrome.

Implications:

These findings expand the known spectrum of congenital anomalies associated with Wolf-Hirschhorn syndrome.
Understanding these rare visceral abnormalities is crucial for comprehensive diagnosis and genetic counseling.
Further research is warranted to elucidate the genetic and developmental pathways underlying these specific malformations.

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