SECKELS SYNDROME: A RARE CASE REPORT
Journal Title: PARIPEX-Indian Journal of Research - Year 2015, Vol 4, Issue 1
Abstract
Seckel syndrome, first defined by Seckel in 1960, is a rare, genetically heterogeneous autosomal recessive disorder presenting at birth with incidence of 1:10,000. This syndrome is characterized by a proportionate dwarfism of prenatal onset, severe microcephaly with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. We hereby present a rare case of Seckel syndrome.
Authors and Affiliations
Dr. Shivaprakash NC, Dr. Eapen Mathew, Dr. Uday Shankar S
Keywords
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