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Small patella syndrome

K Kozlowski¹, J Nelson

¹Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.

American Journal of Medical Genetics

|July 17, 1995

Summary

This summary is machine-generated.

This study describes two new cases of coxo-podo-patellaire syndrome, a rare genetic disorder. The findings suggest it is a generalized bone dysplasia with distinct radiographic features.

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Area of Science:

Genetics
Pediatrics
Radiology

Background:

Coxo-podo-patellaire syndrome, also known as small patella syndrome, is a rare genetic disorder.
This report details two sporadic cases, likely representing new mutations.

Observation:

Both patients exhibited delayed patellar bone age (small or absent patellae) and pelvic abnormalities.
Patient 1 presented with dysmorphic facial features, forefoot abnormalities, and generalized bone changes.
Patient 2 showed similar facial features and abnormal X-rays of the knees, pelvis, and chest.

Findings:

The syndrome is characterized by retarded patellar bone age and pelvic anomalies.
Distinctive facial morphology and generalized bone dysplasia are key features.
Radiographic findings are crucial for diagnosis.

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Implications:

These cases expand the understanding of coxo-podo-patellaire syndrome's clinical spectrum.
The findings support classifying it as a generalized bone dysplasia.
Further research is needed to elucidate the genetic basis and long-term outcomes.