Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Brief Communication
Brief Communication - Nursing
Case Report
Case Series
CEO message
CEO’s Message
Clinical Image
Editorial
Invited Review
Letter to Editor
Narrative Review
Original Article
Pictorial Essay
Review Article
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Brief Communication
Brief Communication - Nursing
Case Report
Case Series
CEO message
CEO’s Message
Clinical Image
Editorial
Invited Review
Letter to Editor
Narrative Review
Original Article
Pictorial Essay
Review Article
View/Download PDF

Translate this page into:

Clinical Image
2 (
1
); 50-51
doi:
10.25259/WJWCH_34_2022

A case of oro-cardio-digital syndrome

Departmernt of Neonatology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
Corresponding author: Bhavya Shah, Department of Neonatology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India. bhavya87@gmail.com
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Shivnani KM, Shah B. A case of oro-cardio-digital syndrome. Wadia J Women Child Health 2023;2(1):50-1.

We report a case of a 42-day-old term female born out of 3rd degree consanguinity, delivered by cesarian section who presented with respiratory distress, skeletal abnormalities, and seizures. On examination, the baby had a broad forehead, low set ears, natal teeth, cleft of the upper lip, short stature with a short trunk, micromelic shortening of limbs [Figure 1a], bilateral dystrophic and hypoplastic nails of fingers and toes, and post-axial polydactyly of both hands [Figure 1b].

Figure 1:
(a) Micromelic shortening of limbs, (b) Dystrophic nails, post-axial polydactyly, (c) Infantogram.

Infantogram [Figure 1c] showed a narrow thorax with short ribs, cardiomegaly, all the long bones appearing thick and short with bulbous metaphysis. Echocardiogram revealed a partial atrioventricular canal defect with a large primum atrial septal defect amounting to a single atrium.

Ellis-van Creveld (EVC) syndrome was suspected in view of the above features and genetic studies for mutations in EVC and EVC2 genes have been advised for confirmation of this condition which is inherited in an autosomal recessive manner.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Conflicts of interest

There are no conflicts of interest.

Financial support and sponsorship

Nil.


Fulltext Views
360

PDF downloads
158
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections