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
Related Articles
- EP ID EP205893
- DOI -
- Views 140
- Downloads 0
Prospective Randomized Study of Cases of Pelvic Fracture Urethral Distraction Defects (PFUDD) Managed by Initial Suprapubic Urinary Diversion with Delayed Urethroplasty versus Early Realignment with Evaluation of Erectile Dysfunction
Traumatic injury is a leading national and international health problem. Indeed, trauma is the leading cause of death for people between ages 1 and 37 years. The incidence of urethral injury in men with pelvic fracture v...
A Prospective Study of Risk Factors for Catheter Associated Bacteriuria in Medical Wards
Most of the urinary tract infections (UTI) occur due to urinary catheterization. UTI is common cause of sepsis, morbidity and death. So the present study was aimed to determine relative risk factors for catheter associat...
MRI Evaluation of Collateral Ligaments of Knee
Aim: To assess the diagnostic accuracy of Magnetic Resonance Imaging in detecting Collateral ligament injuries of knee. Methodology:70 patients referred to the Department of Radiodiagnosis for Magnetic Resonance imaging...
A Comparative study between Retroperitoneoscopic and open Dismembered Pyeloplasty in the Management of Ureteropelvic Junction Obstruction
Objectives: To evaluate Retroperitoneoscopic dismembered Pyeloplasty (RDP) for Ureteropelvic junction obstruction (UPJO) and compare with Open dismembered Pyeloplasty (ODP) in terms of perioperative outcomes and success...
Pattern of Cytology, Chemistry and ADA in Pleuro- peritoneal and Cardiac Tuberculosis in a Tertiary Care Hospital
Introduction: Tuberculosis (TB) is a infectious disease caused by Mycobacterium tuberculosis. The disease primarily affects lungs, although involvement of other tissues is common especially pleura and peritoneum. In area...