title: Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
abstract: Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.
authors.affiliation: Pediatric Intensive Care Unit, Service de Réanimation, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, 48, Boulevard Sérurier, 75019, Paris, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Garnier
authors.forename: Stéphane
authors.initials: S
authors.lastname: Dauger
authors.forename: Danièle
authors.initials: D
authors.lastname: Eurin
authors.forename: Ida
authors.initials: I
authors.lastname: Parisi
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.forename: Katy
authors.initials: K
authors.lastname: Delbecque
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
mesh_terms: D000015:Abnormalities, Multiple; D000032:Abortion, Therapeutic; D000328:Adult; D002574:Cervical Vertebrae; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013117:Spinal Cord Compression / Q000150:complications* / Q000175:diagnosis; D013130:Spinal Stenosis / Q000150:complications / Q000175:diagnosis; D016216:Ultrasonography, Prenatal