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Titolo:
"Shake hands"; Diagnosing a floppy infant - Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis
Autore:
Stuart, AAV; Huisman, M; van Straaten, HLM; Bakker, JC; Arabin, B;
Indirizzi:
Isala Klinieken, Dept Neonatol, Zwolle, Netherlands Isala Klinieken Zwolle Netherlands , Dept Neonatol, Zwolle, Netherlands Isala Klinieken, Dept Perinatol, Zwolle, Netherlands Isala Klinieken Zwolle Netherlands Dept Perinatol, Zwolle, Netherlands Streekziekenhuis, Dept Pediat, Hengelo, Netherlands Streekziekenhuis Hengelo Netherlands Dept Pediat, Hengelo, Netherlands
Titolo Testata:
JOURNAL OF PERINATAL MEDICINE
fascicolo: 6, volume: 28, anno: 2000,
pagine: 497 - 501
SICI:
0300-5577(2000)28:6<497:"HDAFI>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
CTG REPEAT; EXPANSION; GENE;
Keywords:
congenital myotonic dystrophy; inheritance; myotonic dystrophy; pregnancy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Stuart, AAV Catharina Ziekenhuis, Dept Pediat, Postbus 1350, NL-5602 ZA Eindhoven, Netherlands Catharina Ziekenhuis Postbus 1350 Eindhoven Netherlands NL-5602 ZA
Citazione:
A.A.V. Stuart et al., ""Shake hands"; Diagnosing a floppy infant - Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis", J PERIN MED, 28(6), 2000, pp. 497-501

Abstract

Myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in themother with important implications for her life, her further pregnancies and offspring. Genetic principles of anticipation and somatic mosaicism are involved and hamper the prenatal diagnostic possibilities. A family is presented in which maternal myotonic dystrophy and congenital myotonic dystrophy were diagnosed after the third pregnancy. The key features leading to the diagnosis were obstetric history, neonatal hypotonia and asphyxia, facial abnormalities in the mother together with the inability tobury eyelashes and delayed release of grip after shaking hands. The disorder is reviewed with respect to clinical symptoms, pathogenesis and genetics.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 12:53:47