Case Report of A Rare Congenital Anomaly – Thanatophoric Dysplasia
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 9
Abstract
Congenital anomalies areimportant causes of infant and childhood deaths,chronic illness and disability. They are characterized by metabolic , structural ,functional and behavioural disorders present at the time of birth .The etiological factors include chromosomal abnormality and mutation of various genes ,which gives rise to structural and metabolic defects .Thanatophoric dysplasia is a lethal skeletal muscle abnormality incompatible with life due to severe pulmonary hypoplasia .
Authors and Affiliations
Dr. brinda
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