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Results: 1 to 20 of 336

1.

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

Garnier A, Dauger S, Eurin D, Parisi I, Parenti G, Garel C, Delbecque K, Baumann C.

Eur J Pediatr. 2007 Apr;166(4):327-31. Epub 2006 Aug 26.

PMID:
16937129
[PubMed - indexed for MEDLINE]
2.

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.

Herman TE, Lee BC, McAlister WH.

Pediatr Radiol. 2002 Jun;32(6):452-6. Epub 2002 Feb 2.

PMID:
12029348
[PubMed - indexed for MEDLINE]
3.

Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.

Benaicha A, Dommergues M, Jouannic JM, Jacquette A, Alexandre M, Le Merrer M, Ducou Le Pointe H, Garel C.

Ultrasound Obstet Gynecol. 2009 Dec;34(6):724-6. doi: 10.1002/uog.7452.

PMID:
19856318
[PubMed - indexed for MEDLINE]
Free Article
4.

Cervical spinal cord compression in chondrodysplasia punctata. Case illustration.

Yang BP, Mindea SA, DiPatri AJ Jr.

J Neurosurg. 2006 Mar;104(3 Suppl):212. No abstract available.

PMID:
16572643
[PubMed - indexed for MEDLINE]
5.

Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.

Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T.

Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. Review.

PMID:
24712475
[PubMed - indexed for MEDLINE]
6.

Cervical spine stenosis in chondrodysplasia punctata.

Violas P, Fraisse B, Chapuis M, Bracq H.

J Pediatr Orthop B. 2007 Nov;16(6):443-5.

PMID:
17909344
[PubMed - indexed for MEDLINE]
7.

Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis.

Goodman P, Dominguez R.

Magn Reson Imaging. 1990;8(5):647-50.

PMID:
2082136
[PubMed - indexed for MEDLINE]
8.

[Cervical spinal cord compression in chondrodysplasia punctata: report of two cases].

Pascual-Castroviejo I, Pascual-Pascual SI, García-Peñas JJ, Hernández-Moneo JL.

Rev Neurol. 2004 Nov 1-15;39(9):826-9. Spanish.

PMID:
15543497
[PubMed - indexed for MEDLINE]
Free Article
9.

Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS.

Fetal Diagn Ther. 2010;28(3):186-90. doi: 10.1159/000297289. Epub 2010 Jun 3.

PMID:
20523025
[PubMed - indexed for MEDLINE]
10.

Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata.

Mundinger GS, Weiss C, Fishman EK.

Pediatr Radiol. 2009 Jun;39(6):625-8. doi: 10.1007/s00247-009-1181-1. Epub 2009 Feb 24.

PMID:
19238369
[PubMed - indexed for MEDLINE]
11.

Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system.

Eash DD, Weaver DD, Brunetti-Pierri N.

Am J Med Genet A. 2003 Sep 15;122A(1):70-5.

PMID:
12949976
[PubMed - indexed for MEDLINE]
12.

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N.

Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7.

PMID:
23470839
[PubMed - indexed for MEDLINE]
13.

[Stenosis of the spinal canal in case of chondrodystrophy (author's transl)].

Wassmann H, Holbach KH, Bonatelli AP.

Nervenarzt. 1977 Jun;48(6):342-4. German. No abstract available.

PMID:
895956
[PubMed - indexed for MEDLINE]
14.

Dynamic magnetic resonance imaging evaluation of craniovertebral junction abnormalities.

Gupta V, Khandelwal N, Mathuria SN, Singh P, Pathak A, Suri S.

J Comput Assist Tomogr. 2007 May-Jun;31(3):354-9.

PMID:
17538278
[PubMed - indexed for MEDLINE]
15.

Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.

Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS.

Ann Clin Lab Sci. 2013 Winter;43(1):70-5.

PMID:
23462608
[PubMed - indexed for MEDLINE]
16.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT.

Neurology. 2006 Mar 28;66(6):798-803; discussion 789.

PMID:
16567694
[PubMed - indexed for MEDLINE]
17.

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L.

Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039.

PMID:
19839041
[PubMed - indexed for MEDLINE]
18.

[A report on the syndroma of narrow spinal canal at congenital chondrodystrophy (author's transl)].

Biehl G, Schmitt O, Wagner K.

Arch Orthop Trauma Surg. 1978 Oct 27;92(4):257-60. German.

PMID:
727920
[PubMed - indexed for MEDLINE]
19.

Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata.

Goh S.

Pediatr Neurol. 2007 Nov;37(5):382-4.

PMID:
17950430
[PubMed - indexed for MEDLINE]
20.

A quantitative and reproducible method to assess cord compression and canal stenosis after cervical spine trauma: a study of interrater and intrarater reliability.

Furlan JC, Fehlings MG, Massicotte EM, Aarabi B, Vaccaro AR, Bono CM, Madrazo I, Villanueva C, Grauer JN, Mikulis D.

Spine (Phila Pa 1976). 2007 Sep 1;32(19):2083-91.

PMID:
17762809
[PubMed - indexed for MEDLINE]

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