Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

Vol. 42 (4): 793-797, July – August, 2016

doi: 10.1590/S1677-5538.IBJU.2015.0568


Nicolas Fernandez 1 , Rebeca Escobar 2, Ignacio Zarante 3

1 Hospital Universitario San Ignacio Pontificia Universidad Javeriana – Urología – Genética Bogota,
Colombia; 2 Universidad del Rosario – Epidemiología, Bogotá, Colombia; 3 Hospital Universitario San
Ignacio Pontificia Universidad Javeriana – Genética, Bogotá, Colombia


Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies.
Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly.
Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns.
Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly.
Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach.

Keywords: Hypospadias; Craniofacial Abnormalities; South America; Population Groups

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