Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Kargl, S; Meissl, M; Pumberger, W.
Early postnatal diagnosis of Costello syndrome.
Klin Padiatr. 2015; 227(1): 45-47.
Doi: 10.1055/s-0034-1377028
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Kargl Simon
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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. © Georg Thieme Verlag KG Stuttgart · New York.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Atrial Flutter - diagnosis
- Atrial Flutter - genetics
- Costello Syndrome - diagnosis
- Costello Syndrome - genetics
- Early Diagnosis -
- Electrocardiography -
- Female -
- Follow-Up Studies -
- Genetic Carrier Screening -
- Germ-Line Mutation -
- Humans -
- Infant, Newborn -
- Mutation, Missense -
- Pregnancy -
- Proto-Oncogene Proteins p21(ras) - genetics
- Signal Processing, Computer-Assisted -
- Signal Transduction - genetics
- Ultrasonography, Prenatal -
- Find related publications in this database (Keywords)
- genetic disorder
- fetal tachycardia
- feeding difficulties
- cutaneous lesions
- cardiac defects
- cancer susceptibility
- genetische Erkrankung
- fetale Tachykardie
- Ernahrungsschwierigkeiten
- Hautveranderungen
- Herzerkrankungen
- erhohtes Tumorrisiko