Corne lia De Lange Syndrome in a Torch Positive Infant: Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 5
Abstract
Cornelia de Lange syndrome (CdLS) is a rarely seen autosomal dominant syndrome presented with facial dismorphism ( Microbrachycephaly , synophrys, arched eyebrows, lowest ears, long eyelash, wide spaced teeth, upturned nose) ,characteristic cry ,behavioral problems ,feeding problems ,growth retardation ,motor delay, upper limb reduction defects that range from subtle phalanges abnormalities to oligodactyly (missing digits) ,systemic defects etc. Heterozygous mutation in NIPBL or cohesion structural components, SMC1L1, SMC3 identified in major number of patients. Genetic study shows the association of chromosome no. 10, 5 and X most commonly. We present a case of mild CdLS which was TORCH screen positive in her newborn period .Clear cut diagnosis was made from morphological features of the child after ruling out all systemic complication of the child it was marked mild variant of CdLS .
Authors and Affiliations
Dr. Shubhankar Mishra
Keywords
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