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Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2814-2821
Myers, Angela
Bernstein, Jonathan A.
Brennan, Marie-Luise
Curry, Cynthia
Esplin, Edward D.
Fisher, Jamie
Homeyer, Margaret
Manning, Melanie A.
Muller, Eric A.
Niemi, Anna-Kaisa
Seaver, Laurie H.
Hintz, Susan R.
Hudgins, Louanne
2014
Volltextzugriff (PDF)
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Autor(en) / Beteiligte
Myers, Angela
Bernstein, Jonathan A.
Brennan, Marie-Luise
Curry, Cynthia
Esplin, Edward D.
Fisher, Jamie
Homeyer, Margaret
Manning, Melanie A.
Muller, Eric A.
Niemi, Anna-Kaisa
Seaver, Laurie H.
Hintz, Susan R.
Hudgins, Louanne
Titel
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
Ist Teil von
American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2814-2821
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2014
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.36737
Titel-ID: cdi_proquest_miscellaneous_1622603185
Format
–
Schlagworte
Abnormalities, Multiple
,
Cardiofaciocutaneous syndrome
,
Costello syndrome
,
Costello Syndrome - diagnosis
,
Costello Syndrome - genetics
,
Diagnosis, Differential
,
DNA Mutational Analysis
,
Ectodermal Dysplasia - diagnosis
,
Ectodermal Dysplasia - genetics
,
Facies
,
Failure to Thrive - diagnosis
,
Failure to Thrive - genetics
,
Female
,
Heart Defects, Congenital - diagnosis
,
Heart Defects, Congenital - genetics
,
Humans
,
Infant, Newborn
,
Male
,
Mutation
,
Neonatal Screening
,
Noonan syndrome
,
Noonan Syndrome - diagnosis
,
Noonan Syndrome - genetics
,
Phenotype
,
Prenatal Diagnosis
,
RASopathy
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