Genitourinary anomalies of pediatric FG syndrome.
OBJECTIVE
The FG syndrome, also known as Opitz-Kaveggia syndrome, is an X-linked disorder characterized by developmental delay, congenital hypotonia, characteristic facial appearance, relative macrocephaly and anomalies affecting the genitourinary, gastrointestinal and musculoskeletal systems. Genitourinary abnormalities in the FG syndrome include cryptorchidism, hypospadias, inguinal hernia, hydrocele and occasional anomalies of renal or ureteral development. To our knowledge no previous study has systematically evaluated the genitourinary aspects of the disorder. We describe the genitourinary anomalies seen in children with the FG syndrome. This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations.


METHODS
We retrospectively reviewed 228 patients with the FG syndrome to identify the frequency of characteristic historical and physical findings. These patients were diagnosed on the basis of a firsthand history and physical examination, or by a careful outside evaluation including detailed records and photographs.


RESULTS
Of the patients 90% were male. The overall incidence of any genitourinary anomaly was 48.5% in boys, 13.6% in girls and 44.7% overall. In boys the most common abnormalities were cryptorchidism (24%), hypospadias (14%) and hernia or hydrocele (13%).


CONCLUSIONS
The FG syndrome is a disorder with a greater prevalence than previously thought, yet is rarely suspected by urologists. The manifestations may be complex. Identification of patients with syndromal genitourinary anomalies by urologists will enhance the quality of care based on referral of patients for additional evaluation.
Smith
James F
JF
Division of Urology, University of Utah, Salt Lake City, Utah, USA.
Wayment
Robert O
RO
Cartwright
Patrick C
PC
Snow
Brent W
BW
Opitz
John M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006552:Hernia, Inguinal / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D007223:Infant; D008297:Male; D056892:Mediator Complex; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011988:Receptors, Thyroid Hormone / Q000235:genetics; D012017:Referral and Consultation; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D006848:Testicular Hydrocele / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery
C460107:MED12 protein, human; D056892:Mediator Complex; D011988:Receptors, Thyroid Hormone