Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Genitopatellar syndrome is one of the syndromes described in the last decade. It is characterized by agenesis of the corpus callosum, absent or hypoplastic patellae, extremity contractures, skeletal anomalies, urogenital anomalies, and facial dysmorphic features. While writing this report, only 15 cases have been reported in the literature. The etiology, clinical features, management, and natural history of this syndrome are not yet well established. Past reports in the literature have not been able to identify the exact genetic etiology but it somewhat coincides with nail patella syndrome and short patella syndrome. We would like to introduce this terminology to the orthopedic community and highlight the clinical features of the genitopatellar syndrome. To the best of our knowledge, this is a single case report with the longest follow-up of 11 years in the literature.

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Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Cited by 2 publications

References 18 publications

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum

Genitopatellar syndrome

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