Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report-Reference-Cited by-同舟云学术

Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report

Published:2023-12-13 Issue:1 Volume:10 Page:
ISSN:2055-7159
Container-title:BJR|Case Reports
language:en
Short-container-title:

Author:

Klapper Rachel Jane¹^ORCID,Strobel Joshua¹,Hebert Chance²,Venkataraj Maamannan³,Xu Tailong¹,Arevalo Espejo Octavio¹

Affiliation:

1. Department of Radiology, Louisiana State University Health Sciences Center-Shreveport , Shreveport, LA 71103, United States

2. Louisiana State University Health Shreveport, School of Medicine , Shreveport, LA 71103, United States

3. The Department of Internal Medicine, Louisiana State University Health Sciences Center-Shreveport , Shreveport, LA 71103, United States

Abstract

Abstract This case report highlights vertebral segmental anomalies and the fact that the child presented has a rare neurologic condition called pontine tegmental cap dysplasia. Additionally, this case aims to educate learners in developing a differential diagnosis for vertebral and cardiac anomalies such as VACTERL syndromes and common syndromes associated with butterfly vertebrae in children and adolescents.

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/bjrcr/article-pdf/10/1/uaad002/54256100/uaad002.pdf

Reference8 articles.

1. Case 266: pontine tegmental cap dysplasia;Cadman;Radiology,2019

2. A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum;Chong;Brain Dev,2015

3. Increasing prevalence and high risk of associated anomalies in congenital vertebral defects: a population-based study;Heiskanen;J Pediatr Orthop,2022

4. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association;Chen;J Med Genet,2016

5. Butterfly vertebrae: a systematic review of the literature and analysis;Katsuura;Global Spine J,2019