Diagnostic Dilemma

Dysmorphism


Author:
Question
A 20-month-old boy born of non-consanguineous marriage presented with recurrent pneumonia, increased sweating on the forehead, and delayed milestones. Currently, the child is only able to stand with support, do cooing, and has not achieved pincer grasp as yet. His birth history was normal. On examination, he had dysmorphic facies in form of low set ears, small 2nd toe, short neck, undescended testis. Cardiovascular system examination showed a small ventricular septal defect. Other systems were normal. Ultrasound of kidneys revealed absent left kidney and micturating cystourethrogram showed right-sided grade III VUR. X-Ray spine showed fusion of 1st and 2nd cervical vertebrae.

What is the diagnosis?
Expert Opinion :
Klippel Feil syndrome. It is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis, spina bifida, anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations.
Answer Discussion :
H
hizbullah khan
bubble
klipple fiel syndrome
1 month ago
G
ganesh
bubble
VACTERAL ASSOCIATION
1 month ago

View More Comments

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0