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Congenital knee dislocation in a 49,XXXXY boy

R H Sijmons¹, A J van Essen, J D Visser

¹Department of Medical Genetics, University of Groningen, The Netherlands.

Journal of Medical Genetics

|April 1, 1995

Summary

A 12-year-old boy with 49,XXXXY karyotype experienced congenital knee dislocation and joint laxity. This case highlights the importance of karyotyping for patients with joint malformations and developmental delays.

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Area of Science:

Genetics
Pediatrics
Orthopedics

Background:

Congenital joint dislocations and laxity can be associated with chromosomal abnormalities.
The 49,XXXXY karyotype is a rare aneuploidy with variable clinical manifestations.

Observation:

A 12-year-old male presented with bilateral congenital knee dislocations, right hip dislocation, and generalized joint laxity.
Cytogenetic analysis revealed a 49,XXXXY karyotype.

Findings:

While joint hyperlaxity is a known feature of 49,XXXXY syndrome, congenital knee dislocation has not been previously reported in this condition.
The patient's presentation suggests a potential link between 49,XXXXY and severe congenital joint malformations.

Implications:

This case expands the known phenotype of 49,XXXXY syndrome.
It underscores the recommendation for karyotyping in infants with congenital joint dislocations or laxity, especially when accompanied by other malformations or psychomotor delay, to identify underlying chromosomal abnormalities.