Subscribe to RSS
DOI: 10.1055/s-0034-1377028
Early Postnatal Diagnosis of Costello Syndrome
Costello Syndrom – frühe postnatale DiagnosePublication History
Publication Date:
25 July 2014 (online)
![](https://www.thieme-connect.de/media/klinpaed/201501/lookinside/thumbnails/10.1055-s-0034-1377028-1.jpg)
Abstract
Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics led to an early diagnosis of Costello syndrome. Based on this patient we describe challenges and problems of therapeutic management of infants with Costello syndrome.
Zusammenfassung
Beim Costello Syndrom handelt es sich um eine äußerst seltene kongenitale Erkrankung. Aufgrund eines genetischen Defekts auf Chromosom 11 kommt es neben Hautveränderungen, Herzerkrankungen und einem erhöhten Tumorrisiko zu typischen kraniofazialen und muskuloskeletalen Stigmata. Wir präsentieren den Fall eines Kindes, bei dem eine fetale Tachykardie, ein Polyhydramnion und typische äußere Merkmale zur frühen Diagnose eines Costello Syndroms führten. Anhand dieses Patienten skizzieren wir die Herausforderungen und Probleme bei der Behandlung von Kindern mit Costello Syndrome.
-
References
- 1 Aoki Y, Niihori T, Kawame H et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005; 37: 1038-1040
- 2 Axelrad ME, Schwartz DD, Katzenstein JM et al. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review. Am J Med Genet C Semin Med Genet 2011; 157: 115-122
- 3 Costello JM. A new syndrome. NZ Med J 1971; 74: 397A
- 4 Digilio MC, Lepri F, Baban A et al. RASopathies: Clinical Diagnosis in the First Year of Life. Mol Syndromol 2011; 1: 282-289
- 5 Gripp KW. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 2005; 137C: 72-77
- 6 Gripp KW, Lin AE. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med 2012; 14: 285-292
- 7 Gripp KW, Lin AE. Costello Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. (eds.). GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993–2013
- 8 Gripp KW, Scott CI, Nicholson L et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet 2002; 108: 80-87
- 9 Kratz CP, Rapisuwon S, Reed H et al. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011; 157: 83-89
- 10 Lin AE, O’Brien B, Demmer LA et al. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. Prenat Diagn. 2009; 29: 682-690
- 11 Lin AE, Alexander ME, Colan SD et al. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A 2011; 155A: 486-507
- 12 Morice-Picard F, Ezzedine K, Delrue MA et al. Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. Pediatr Dermatol 2013; 30: 665-673
- 13 Peters RT, Balduyck B, Nour S. Gastrostomy complications in infants and children: a comparative study. Pediatr Surg Int 2010; 26: 707-709
- 14 Renna MD, Pisani P, Conversano F et al. Sonographic markers for early diagnosis of fetal malformations. World J Radiol 2013; 5: 356-371