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The G syndrome--additional observations

S Arya, C Viseskul, E F Gilbert

American Journal of Medical Genetics

|January 1, 1980

Summary

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This report details the second fatal G syndrome case in a female, highlighting unique developmental anomalies. The findings expand the known G syndrome phenotype, including previously unreported features.

Area of Science:

Genetics
Developmental Biology
Pediatric Medicine

Background:

G syndrome is a rare genetic disorder with significant developmental implications.
Previous cases have primarily focused on male patients, limiting understanding of sex-specific manifestations.
Identifying novel phenotypic variations is crucial for accurate diagnosis and management.

Observation:

This study documents the second reported lethal case of G syndrome in a female patient.
The observed developmental defects included posterior auricular angulation, bifid tongue with a long frenulum, epiglottic and laryngeal hypoplasia, rocker bottom feet, and genital anomalies.
Novel findings in this case included circumvallate placenta and an incompletely perforated hymen.

Findings:

The female G syndrome phenotype presents with a distinct set of congenital anomalies.

Related Experiment Videos

The presence of circumvallate placenta and hymenal variations expands the spectrum of G syndrome.

This case underscores the variability of G syndrome expression and its potential lethality.

Implications:

This case expands the known phenotypic spectrum of G syndrome, particularly in females.
Understanding these variations aids in improved genetic counseling and prenatal diagnostics.
Further research into G syndrome genetics and pathophysiology is warranted to develop targeted therapies.