Genitopatellar syndrome is a rare condition characterized by absent patellae, hydronephrosis, and scrotal hypoplasia in males Clitoral hypertrophy and hypoplastic labia have been described in the two reported female patients. We describe the thirteenth case of genitopatellar syndrome in a female, who also has bilateral radioulnar synostosis and colpocephaly. Our patient was ascertained prenatally when an ultrasound revealed severe bilateral hydronephrosis and an atrial septal defect. After delivery, microcephaly, mild camptodactyly, unusual knee dimples, lower extremity contractures, and unilateral clubfoot were noted. MRI and ultrasound of the knees confirmed absent patellae. The genitalia showed clitoral hypertrophy with hypoplastic labia. Further radiologic evaluation demonstrated bilateral radioulnar synostosis, cervical ribs, hypoplastic iliac bones, and splayed pubic bones. MRI revealed agenesis of the corpus callosum with colpocephaly. Only twelve cases of the genitopatellar syndrome have been published in the literature to our knowledge. Additional reported findings include microcephaly, lower extremity contractures, clubfeet, congenital heart defects, and agenesis of the corpus callosum. Although a number of conditions exist with absent or hypoplastic patellae, the constellation of findings in these patients is unique and not explained by other syndromes or associations. The findings in our case are identical to earlier cases, with the exception that radioulnar synostosis and colpocephaly have not previously been reported. The association of absent patellae with radioulnar synostosis and other skeletal anomalies suggests that a generalized bone dysplasia may be an underlying component of genitopatellar syndrome. Karyotype and metabolic tests have not revealed an underlying etiology in any patient identified to date. The prognosis for affected individuals is poor as most do not survive infancy. Although a few children have survived the first decade, they remain non-ambulatory and nonverbal with severe mental retardation. The presence of colpocephaly in our patient also suggests a similarly poor prognosis.
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