Patients with Congenital Limb Anomaly Show Short Telomere, Shutdown of Telomerase and Deregulated Expression of Various Telomere-Associated Proteins in Peripheral Blood Mononuclear Cells-A Case Series.

Congenital limb anomalies are outcome of improper bone formation during embryonic development when cells divide, differentiate with high rate. So, telomerase activity is essential to maintain telomere length for such highly dividing cells. Here, we report four cases of congenital limb anomalies with detailed structures of limbs along with other clinical manifestations of age less than two years. We compared telomere length, expression of telomerase and telomere-associated genes of Peripheral Blood Mononuclear Cells (PBMC) in patient and four age-matched normal individual. Patient-1 was diagnosed with congenital limb hypogenesis ectrodactyly sequence, an autosomal dominant disorder, showing absence of digits and fibula in upper and lower limb respectively. Both mother and grandmother of Patient-1 showed similar hypogenesis of limbs. Patient-2 showed bilateral clenched hand with arthrogryposis, microcephaly and holoprosencephaly. Both Patient-3 and Patient-4 has no radius in upper limb. Additionally, Paient-3 showed right sided orbital Space Occupying Lesion (SOL) and Paranasal Sinuses (PNS) whereas Patient-4 showed fused kidney with fanconi anaemia. Furthermore, all the patients showed shorter telomere length, inactive telomerase and de-regulated expression of telomere-associated proteins in PBMC compared with age-matched control group. So, we can conclude that congenital limb anomalies may be linked with telomeropathy and a study with large number of samples is required to firmly establish such association.

Viral mononeurities causing partial oculomotor nerve palsy in an 8 month old child.

BACKGROUND: Palsy of the oculomotor nerve is rarely seen in children, and comprehensive guidelines for management and outcome are difficult to find. CASE: Here we describe a 8 month old boy with left sided ptosis and infero-leteral deviation of left eye and normally reacting pupil and CSF antimeasles antibody titre negative. OUTCOME: The ptosis improved within 3 weeks with no residual neurodeficit. MESSAGE: Viral mononeuritis leading to partial 3rd nerve palsy is a rare entity in children till date.

Double chamber right ventricle in Williams syndrome: a rare cardiac anomaly reported.

Cardiovascular abnormality is the most consistent finding and occur in almost 80 % of all Williams syndrome (WS). Although a number of cardiovascular defects are common to WS, the majority presents in some form of arterial stenosis whereas supravalvular aortic stenosis is the most common one. Here we describe a 12 year old boy with elfin facies, presenting with urinary incontinence and a systolic murmur in right upper parasternal region. Echocardiography showed presence of double chambered right ventricle (DCRV) along with supravalvular aortic stenosis (SVAS) and coronary artery aneurysms, left pulmonary artery stenosis and multiple bladder diverticula in CT abdomen. With the clinical suspicion the diagnosis of WS was made and confirmed by fluorescent in situ hybridisation (FISH) study showing deletion in 7q11.23. Though different forms of arterial stenosis at multiple sites have been demonstrated in WS, DCRV in Williams syndrome is not reported till date in medical literature.