Acta Scientific Paediatrics (ASPE)

Case Report Volume 7 Issue 1

A Rare Case Report: Acrocephalosyndactyly-Apert Syndrome

Chakradhar Maddela*

Consultant Neonatologist and Echocardiologist, Division of NICU- PICU, Professor of Paediatrics, MNR Medical College and Hospital, Sangareddy, Telangana, India

*Corresponding Author: Chakradhar Maddela, Consultant Neonatologist and Echocardiologist, Division of NICU- PICU, Professor of Paediatrics, MNR Medical College and Hospital, Sangareddy, Telangana, India.

Received: December 18, 2023; Published: December 26, 2023

Abstract

Apert syndrome is a rare genetic disorder involving mutation of Fibroblast growth factor receptor 2 (FGFR2) gene. FGFR2 gene is essential for growth of bones. Its deficiency results in abnormal premature fusion of bones of cranium, hands and feet. This results in abnormal size and shape of skull and syndactyly of hands and feet with its associated consequences and complications.

Keywords: Apert Syndrome; Case Report; Image

References

  1. Driessen C., et al. “Apert syndrome: the Paris and Rotterdam philosophy - REVIEW”. Expert Opinion on Orphan Drugs 7 (2017): 599-605.
  2. Pius S., et al. “Apert Syndrome: A Case Report and Review of Literature”. Open Journal of Paediatrics 6 (2016): 175-184.

Citation

Citation: Chakradhar Maddela. “A Rare Case Report: Acrocephalosyndactyly-Apert Syndrome".Acta Scientific Paediatrics 7.1 (2024): 22-23.

Copyright

Copyright: © 2024 Chakradhar Maddela. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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