Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review-Reference-Cited by-同舟云学术

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

Published:2013-12 Issue:4 Volume:53 Page:160-162
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Ochiai Daigo¹,Takamura Kyoko²,Nishimura Gen³,Ikeda Toshiyuki¹,Yakubo Kazumi¹,Fukuiya Tatsuro¹

Affiliation:

1. Department of Obstetrics and Gynecology; Saitama City Hospital; Saitama-shi Saitama Japan

2. Department of Neonatology; Saitama City Hospital; Saitama-shi Saitama Japan

3. Department of Pediatric Imaging; Tokyo Metropolitan Children's Medical Center; Fuchu-shi Tokyo Japan

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency;Alessandri;Clin Dysmorphol,2010

2. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report;Benaicha;Ultrasound Obstet Gynecol,2009

3. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome;Boulet;Fetal Diagn Ther,2010

4. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability;Brunetti-Pierri;Am J Med Genet A,2003

5. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases;Chitayat;Am J Med Genet A,2008

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Obstetrics and neonatal outcomes of binder phenotype with antenatal diagnosis: A case report and literature review;Journal of Gynecology Obstetrics and Human Reproduction;2024-12

2. X-linked chondrodysplasia punctata type 1 (CDPX1) - case report with atypical phenotype;O Mundo da Saúde;2024-01-01

3. 点状軟骨異形成症に伴う環軸椎亜脱臼に対して手術した1例;Orthopedics & Traumatology;2021-09-25

4. Use of 3D Printing Technology for Cervical Thoracic Lumbosacral Orthosis Fabrication;JPO Journal of Prosthetics and Orthotics;2021-07-01

5. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata;Pediatric Radiology;2018-03-23

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