Seckel syndrome: A case report of the rare syndrome

Autor: N Mahesh, Sivan Sathish, Lakshmayya Naidu, Sanjay Reddy, J Rajesh K. Reddy, Pavan Kancherla
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Journal of Dr. NTR University of Health Sciences, Vol 7, Iss 3, Pp 223-227 (2018)
Druh dokumentu: article
ISSN: 2277-8632
DOI: 10.4103/JDRNTRUHS.JDRNTRUHS_100_14
Popis: Seckel syndrome is a rare genetic disorder characterized by marked intra-uterine growth retardation (primordial dwarfism) and post natal dwarfism, microcephaly, mental retardation and typical facial features with a 'bird-headed' appearance. The syndrome has autosomal recessive inheritance with equal male and female sex occurrence. Here is an interesting case of a nineteen years old male patient, presented with various clinical manifestations, typical radiographic features and characteristic dental manifestations correlated with the literature. A thorough knowledge aids in better diagnosis, proper management and prevention of disastrous complications arising from this extremely rare inherited disorder, the Seckel syndrome.
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