Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
FETAL AKINESIA-HYPOKINESIA DEFORMATION SEQUENCE (FADS) IN 2 SIBLINGS WITH CONGENITAL MYOTONIC-DYSTROPHY
Autore:
JENSEN ML; RIX M; SCHRODER HD; TEGLBJAERG PS; EBBESEN F;
Indirizzi:
ODENSE UNIV HOSP,DEPT PATHOL DK-5000 ODENSE DENMARK AALBORG HOSP,DEPT PEDIAT AALBORG DENMARK AALBORG HOSP,DEPT PATHOL DK-9000 AALBORG DENMARK ODENSE HOSP,DEPT PATHOL ODENSE DENMARK
Titolo Testata:
Clinical neuropathology
fascicolo: 2, volume: 14, anno: 1995,
pagine: 105 - 108
SICI:
0722-5091(1995)14:2<105:FADS(I>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE; ARREST;
Keywords:
FETAL AKINESIA-HYPOKINESIA DEFORMATION SEQUENCE; PENA-SHOKEIR SYNDROME; CONGENITAL MYOTONIC DYSTROPHY; SKELETAL MUSCLE IMMATURITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
M.L. Jensen et al., "FETAL AKINESIA-HYPOKINESIA DEFORMATION SEQUENCE (FADS) IN 2 SIBLINGS WITH CONGENITAL MYOTONIC-DYSTROPHY", Clinical neuropathology, 14(2), 1995, pp. 105-108

Abstract

Two premature siblings described herein had clinical features comparable to the fetal akinesia-hypokinesia deformation sequence (Pena-Shokeir syndrome) with polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, short umbilical cord and lethality. Autopsy revealed no thoracal or abdominal viscera anomalies and examination of the brain, spinal cord and peripheral nerves did not disclose any pathological changes. Light microscopy, immunohistochemistry and electron microscopy of skeletal muscles demonstrated immature muscles with some fibril disorganisation and abnormal immunoreactivity for actin and desmin. Subsequent molecular genetic analysis revealed a maternal diagnosis ofmyotonic dystrophy. The retarded growth and maturation of skeletal muscle observed in the presented cases correspond with previous findingsin neonatal myotonic dystrophy. A well-defined myopathy can thus result in the fetal akinesia-hypokinesia deformation sequence.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/07/20 alle ore 06:37:30