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Trisomy 18 syndrome with cleft foot.

D Castle¹, R Bernstein

¹Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.

Journal of Medical Genetics

|August 1, 1988

Summary

Severe ectrodactyly of the feet, a rare condition, was observed in a male infant with trisomy 18 syndrome. This case, the first with X-ray documentation, suggests an extreme manifestation of common foot anomalies in this syndrome.

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Trisomy 18 syndrome, also known as Edwards syndrome, is a genetic disorder associated with multiple congenital anomalies.
Ectrodactyly, a limb malformation characterized by a cleft hand or foot, is rarely reported in association with Trisomy 18.

Observation:

A male infant diagnosed with Trisomy 18 syndrome presented with a severe form of ectrodactyly of the feet.
This case is unique as it is the first documented instance of this specific anomaly in Trisomy 18 syndrome to include illustrative X-ray images.

Findings:

The observed severe ectrodactyly of the feet in the context of Trisomy 18 syndrome is presented.
Radiographic evidence supports the diagnosis and illustrates the severity of the foot malformation.

Implications:

This finding suggests that severe ectrodactyly may represent an extreme phenotypic expression of the foot anomalies commonly seen in Trisomy 18 syndrome.
Further research into the genetic and developmental mechanisms underlying limb malformations in chromosomal abnormalities is warranted.
Clinical awareness of this severe presentation can aid in diagnosis and management of infants with Trisomy 18 syndrome.

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