Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: Report of four new cases

European Journal of Pediatrics

Volumn 166, Issue 4, 2007, Pages 327-331

  Garnier, Arnaud ^a,b   Dauger, Stéphane ^a,b   Eurin, Danièle ^c   Parisi, Ida ^d   Parenti, Giancarlo ^d   Garel, Catherine ^a,b   Delbecque, Katy ^a,b   Baumann, Clarisse ^a,b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL CHARLES NICOLLE   (France)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Brachytelephalangic chondrodysplasia punctata; Magnetic resonance; Neonate; Prenatal diagnosis; Spinal cord

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; HUMAN; KARYOTYPE 46,XY; MALE; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; SPINAL CORD COMPRESSION; SPINE RADIOGRAPHY; VERTEBRAL CANAL STENOSIS;

ABNORMALITIES, MULTIPLE; ABORTION, THERAPEUTIC; ADULT; CERVICAL VERTEBRAE; CHONDRODYSPLASIA PUNCTATA; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PREGNANCY; SPINAL CORD COMPRESSION; SPINAL STENOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 33847153861     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0239-4     Document Type: Article

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