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Titolo:
CASE-REPORT - PRENATAL-DIAGNOSIS OF DIASTROPHIC DYSPLASIA BY ULTRASOUND AT 21 WEEKS OF GESTATION IN A MOTHER WITH MASSIVE OBESITY
Autore:
JUNG C; SOHN C; SERGI C;
Indirizzi:
INST HUMAN GENET & ANTHROPOL,GENET POLIKLIN,NEUENHEIMER FELD 344A D-69120 HEIDELBERG GERMANY UNIV HEIDELBERG,DEPT HUMAN GENET D-6900 HEIDELBERG GERMANY UNIV HEIDELBERG,DEPT GYNAECOL D-6900 HEIDELBERG GERMANY UNIV HEIDELBERG,DEPT PATHOL D-6900 HEIDELBERG GERMANY
Titolo Testata:
Prenatal diagnosis
fascicolo: 4, volume: 18, anno: 1998,
pagine: 378 - 383
SICI:
0197-3851(1998)18:4<378:C-PODD>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
SKELETAL DYSPLASIAS; SULFATE-TRANSPORTER; BONE DYSPLASIAS; DWARFISM;
Keywords:
DIASTROPHIC DYSPLASIA; PRENATAL DIAGNOSIS; DIFFERENTIAL DIAGNOSIS OF SKELETAL DYSPLASIAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
C. Jung et al., "CASE-REPORT - PRENATAL-DIAGNOSIS OF DIASTROPHIC DYSPLASIA BY ULTRASOUND AT 21 WEEKS OF GESTATION IN A MOTHER WITH MASSIVE OBESITY", Prenatal diagnosis, 18(4), 1998, pp. 378-383

Abstract

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumferencenarrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparentdue to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity. (C) 1998 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 16:44:04