Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Am J Med Genet A 149A(3):451-5 (2009) PMID 19208376

Genitopatellar syndrome (GPS) is a rare disorder with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation. Twelve patients with ages from 15 days to 12 years and two affected fetuses have been reported. We describe a 17-year-old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manifestations of GPS.