Genitopatellar syndrome: Delineating the anomalies of female genitalia

Abstract

We report the second female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. The salient features include severe mental retardation and microcephaly with absence of the corpus callosum, absent/hypoplastic patellae, genital anomalies, and hydronephrosis.

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

“…Thereafter, eight other male, three female patients, and two affected male fetuses have been reported [Cormier-Daire et al, 2000;Armstrong and Clarke, 2002;Lammer et al, 2002;Reardon, 2002;Lifchez et al, 2003;Abdul-Rahman et al, 2006]. All patients had microcephaly, a broad nose, a small or retracted chin, flexion contractures of lower limbs, abnormal or missing patellae, and urogenital anomalies.…”

“…The predominance of affected males has been explained by the easier recognition of the abnormal male genitals [CormierDaire et al, 2000;Lammer et al, 2002].…”

Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association

“…4 We present a 17-month-old male child who is the 17th case of GPS reported in the literature and the first reported GPS patient to be diagnosed with neuroblastoma. [1][2][3][5][6][7][8][9][10][11][12][13] The patient presented at birth with features of GPS includes extremity deformities, facial dysmorphism, bilateral cryptorchidism, absent corpus callosum and anterior commissure, and severe gastroesophageal reflux disorder (Supporting Information Figure S1). The patient was found to have a germline heterozy- Figure S1).…”

Genitopatellar syndrome

“…In a recent report by Abdul-Rahman et al [4] radioulnar synostosis has been added as another consistent finding. Congenital heart defect, rib anomalies, and pelvic anomaly were found in three subsequent cases described by various authors [5,7,8]. The association of sensorineural hearing loss and a cleft palate was reported by Bergmann et al [10].…”

“…But not until 2000 were the clinical features of patellar abnormality, mental retardation, genital abnormalities, renal anomalies, and dysmorphic facial features formally grouped by CormierDaire et al as the diagnostic features of their seven GPS patients [3]. Since then, eight more cases have been reported in the literature by various authors [4][5][6][7][8]. However, the exact etiology, clinical manifestations, treatment, and natural history of the syndrome are still unknown.…”