Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.

We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane’s retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

A case report of ectopia cordis and omphalocele.

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell’s pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here

Unusual manifestation of Marden-walker syndrome.

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.

Congenital malformations at birth in Central India: A rural medical college hospital based data.

OBJECTIVE: To study the incidence of congenital anomalies and the associated risk factors in Department of Pediatrics at Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, a rural medical college hospital in central Maharashtra. MATERIALS AND METHODS: All the intramural deliveries between 1 January 2005 and 31 July 2007 comprised 9386 births and their 9324 mothers (62 mothers gave birth to twin babies). The newborns were examined and assessed systematically for the presence of congenital anomalies, system wise distribution of anomalies and risk factors attributable. RESULTS: Out of the total 9386 deliveries, 9194 were live births and 192 were stillbirths. The total number of babies with congenital malformations was 179 (1.91%). Out of the 9262 singleton births, 177 (1.05%) were malformed, whereas 2 of the 62 pairs of twins had birth defects. Nine of the 179 malformed babies (5.02%) were still born. Prematurity, increased maternal age, increasing birth order and low birth weight were found to have a higher risk of congenital anomalies. Cardiovascular malformations were most common in live births, followed by musculoskeletal and genitourinary anomalies. CONCLUSION: Congenital anomalies are a major cause of stillbirths and infant mortality. Evaluation of cardiovascular system to rule out congenital heart disease in high-risk mothers’ babies is the important factor to be considered.

MR Imaging of The Wilson’s Disease.

Wilson’s disease is known to have various hepatic manifestations like acute hepatitis, chronic hepatitis, cirrhosis of liver and acute fulminant hepatic failure can occur in early childhood. However, we report here Wilson’s disease, presented with neurological manifestations without hepatic involvement.

Lizard bite in Indian child : Case report.

Lizard bite is very uncommon in children. Here we report a child who had bitten by lizard on the right thumb and recovered without any complication.

Left ventricular systolic and diastolic functions in patients with sickle cell anemia.

BACKGROUND: Sickle cell anemia is a formidable problem in India, and is more prevalent in Maharashtra. Cardiovascular involvement in this condition has not been well studied. The present study therefore sought to investigate the systolic and diastolic left ventricular function of children with sickle cell anemia. METHODS AND RESULTS: This prospective controlled study comprised of 25 cases of sickle cell anemia, 25 cases of anemia (hemoglobin <11 gm/dl) with 'AA' types of hemoglobin electrophoresis and 25 non-anemic controls (hemoglobin >11 gm/dl) with normal hemoglobin electrophoresis pattern. M-mode, 2-dimensional and Doppler echcardiographic measurements of patients and controls were performed according to criteria of the American Echocardiography Society. In the study cases, age ranged from 5 years to 15 years with the mean age of 9.91 years. There were 14 males and 11 females in the study cases. Patients with sickle cell anemia had significantly larger left atrial (23.26 +/- 3.6 mm, 22.9 +/- 2.56 mm, 20.72 +/- 2.79 mm; p < 0.05), left ventricular (34.88 +/- 4.53, 33.28 +/- 3.28, 30.72 +/- 3.68: p < 0.05) and aortic root (19 +/- 2.7, 18.91 +/- 2.24, 17.56 +/- 1.44; p < 0.05) dimensions. They also had higher indexed end-diastolic left ventricular volumes (101.84 +/- 22.74 ml/m2 v. 65.05 +/- 10.81 ml/m2; p < 0.001), and higher stroke volume (29.32 +/- 11.32 ml, 27.12 +/- 7.82 ml, 22.4 +/- 6.67 ml; p < 0.05). Left ventricular mass (62.24+/- 18.44 gm, 52.53 +/- 16.23 gm, 50.2 +/- 15.68 gm; p < 0.05) was greater in sickle cell anemia patients than in controls. No statistically significant differences were detected in the Doppler finding of patients with or without anemia. No statistically significant correlation was found between echocardiographic parameters (M-mode and Doppler) and the hemoglobin in the sickle cell patients. CONCLUSIONS: Echocardiography is a useful non-invasive technique to study the changes in cardiac structure and function. In spite of left ventricular volume load and dilation in sickle cell anemic patients, left ventricular contraction was good and systolic function was normal, and there was no correlation between the echocardiographic findings and hemoglobin level.

Pain response of neonates to venipuncture.

OBJECTIVE: To study the physiological and behavioral response to pain. METHODS: 80 healthy neonates requiring bilirubin estimation, blood sugar etc, were randomly assigned to receive a venous puncture. All parameters were recorded 10 minutes prior, during and 10 minutes after the procedure. Evaluated NIPS score and RR. HR, NIBP and O2 saturation observed on Datex-Ohmeda multimonitor. RESULTS: After the venepuncture, heart rate (p<0.001) and blood pressure (p<0.001) were significantly increased in both the groups but more significant increase was present in Group I (>2.5 kg) as compared to Group II (>2.5 kg). Respiratory rate was also increased but more significant in Group II (p<0.001) whereas oxygen saturation was decreased in both the groups but more significant in Group I (p<0.001). Median Neonatal Infant Pain Scale (NIPS) score was higher in both the Groups (p<0.001). CONCLUSION: The outcome measures appear to be reliable indices of term neonates responses to painful stimulation. NIPS are suitable instruments for neonatal pain evaluation.