title: Early postnatal diagnosis of Costello syndrome.
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.
authors: Department of Pediatric Surgery, Women's and Children's Hospital Linz, Linz, Austria.
authors: S
authors: S
authors: Kargl
authors: Department of Pediatrics, Women's and Children's Hospital Linz, Linz, Austria.
authors: M
authors: M
authors: Meissl
authors: Department of Pediatric Surgery, Women's and Children's Hospital Linz, Linz, Austria.
authors: W
authors: W
authors: Pumberger
mesh_terms: D000328:Adult; D001282:Atrial Flutter / Q000175:diagnosis / Q000235:genetics; D056685:Costello Syndrome / Q000175:diagnosis* / Q000235:genetics*; D042241:Early Diagnosis; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D011247:Pregnancy; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D012815:Signal Processing, Computer-Assisted; D015398:Signal Transduction / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)