[Rare diseases with clinical relevance-the Silver-Russell syndrome].
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively. Anesthetic problems with SRS children can be profound and mostly concern a difficult airway due to facial dysmorphism. Especially the young, very thin SRS patients are prone to hypoglycemia and hypothermia and require close perioperative monitoring. Children with SRS and their families face challenges from birth to adulthood. In case of urogenital abnormalities, they should receive multidisciplinary care by pediatric urologists/surgeons and pediatric anesthesiologists in a center of expertise in rare diseases.
Klinik für Kinderurologie in Kooperation mit der Universität Regensburg, Klinik St. Hedwig, Steinmetzstraße 1-3, 93049, Regensburg, Deutschland. claudia.neissner@barmherzige-regensburg.de.
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Abteilung für Kinderanästhesie, Klinik St. Hedwig, Regensburg, Deutschland.
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Schepp
Klinik für Kinderurologie in Kooperation mit der Universität Regensburg, Klinik St. Hedwig, Steinmetzstraße 1-3, 93049, Regensburg, Deutschland.
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D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D035583:Rare Diseases; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D055815:Young Adult
Craniofacial abnormalities; Face skull; Genitourinary malformations; Growth retardation; Transition