Seckel syndrome: A case report of the rare syndrome

oleh: N Mahesh, Sivan Sathish, Lakshmayya Naidu, Sanjay Reddy, J Rajesh K. Reddy, Pavan Kancherla

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2018-01-01

Deskripsi

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.