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Prajapat M, Kothiwala SK, Sharma M, et al. Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses. Indian Dermatol Online J. 2016;7(5):396-398doi: 10.4103/2229-5178.190508.
Prajapat, M., Kothiwala, S. K., Sharma, M., & Kuldeep, C. M. (2016). Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses. Indian dermatology online journal, 7(5), 396-398. https://doi.org/10.4103/2229-5178.190508
Prajapat, Mahesh, et al. "Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses." Indian dermatology online journal vol. 7,5 (2016): 396-398. doi: https://doi.org/10.4103/2229-5178.190508
Prajapat M, Kothiwala SK, Sharma M, Kuldeep CM. Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses. Indian Dermatol Online J. 2016 Sep-Oct;7(5):396-398. doi: 10.4103/2229-5178.190508. PMID: 27730037; PMCID: PMC5038102.
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Indian Dermatol Online J. 2016 Sep-Oct;7(5):396-398. doi: 10.4103/2229-5178.190508.

Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses.

Indian dermatology online journal

Mahesh Prajapat, Sunil K Kothiwala, Mohit Sharma, C M Kuldeep

Affiliations

  1. Department of Skin and VD, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
  2. Jaipur National University, Institute for Medical Sciences and Research Centre, Jaipur, Rajasthan, India.
  3. Department of Cardio-Vascular and Thoracic Surgery, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.

PMID: 27730037 PMCID: PMC5038102 DOI: 10.4103/2229-5178.190508

Abstract

Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.

Keywords: Cardiofacio-cutaneous syndrome; RASopathy; genodermatoses

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