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Background: Chromosomal abnormalities are the result of alterations in the number or structure of chromosomes leading to significant human morbidity and mortality. They are responsible for large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations, and mental retardation. Objectives: The objectives of the study were to find the occurrence of chromosomal abnormalities in infants and children with various phenotypic presentations and to analyze the impact of associated risk factors for chromosomal abnormalities in children. Materials and Methods: A retrospective single-center study, based on the outcome data of chromosomal analysis of 112 children admitted to the pediatric department of our hospital over a period of 3 years, was reported. The data were collected from the electronic medical records for analysis, including maternal age, consanguinity, family history of any congenital anomalies and malformations, clinical details, and the results of chromosomal analysis. Results: A statistically significant association between the presence of dysmorphic features and chromosomal abnormalities with 3 times increased risk when compared to children with no dysmorphism (relative risk [RR] 3.06, 95% confidence interval [CI] 1.71–5.50, p=0.0002). Among the congenital anomalies, the presence of congenital heart defects had strong association and was found to be 43% higher in children with chromosomal abnormalities (RR 1.43, 95% CI 1.10–1.86, p=0.0069). Our study demonstrated a strong association for maternal age >35 years and the risk for chromosomal abnormality. It was 1.75 times more than the children born to mothers ?35 years age (RR 1.75, 95% CI 1.29–2.36, p=0.0003). Conclusion: Cytogenetics has a major role in diagnosis of chromosomal abnormalities, especially in children with dysmorphic features and congenital heart defects. The early diagnosis is important for planning and resource allocation of specialized health services directed toward the families and infants.

OBJECTIVE Human growth is a continuous process. Studies defining placental effect on prenatal and postnatal human growth are few. We studied the anthropometric data of hundred mothers who gave birth at term after an uncomplicated singleton pregnancy, and their infants in relation to their placental weight using linear regression analysis. Mother weight, placental weight, and infant length (BL), weight (BW), and head circumference (HC) were obtained at birth and during childhood period (4.5 ± 2 years) of age. At birth, placental weights were correlated significantly with maternal weights (r = 0.21, P = 0.031). Placental weights were significantly correlated with growth parameters of the child at birth and during childhood. Infant BW (r = 0.71, r < 0.001), body mass index SDS (BMI SDS) (r = 0.589, P < 0.001), length SDS (LSDS) (0.567, P < 0.001) and HC (r = 0.699, P < 0.001). During childhood, placental weights were correlated with BMI SDS (r = 0.296, P = 0.002) and HtSDS = (r = 0.254, P = 0.009). LSDS at birth was correlated significantly with HtSDS during childhood (r = 0.445, P < 0.001). Placental weight represents a good marker of fetal growth (at birth) and significantly correlates with early childhood growth in full-term infants.

Results: At presentation patients with CHD height SDS (HtSDS) and GVSDS were significantly decreased vs normal controls. The BMI of CCHD were significantly lower than normal controls. Before intervention, CCHD had significantly decreased length SDS (LSDS) and growth velocity SDS (GVSDS) vs CAHD. One year after intervention the HtSDS, GVSDS increased significantly in patients with CCHD and CAHD. After intervention CCHD had higher GVSDS compared to children with CAHD. BMI increased significantly in patients with CCHD after intervention. IGF1 levels increased significantly in both groups of patients after intervention. The HtSDS after treatment was correlated with the IGF1 concentration (r=0.70, P

Ultrasonographic (US) evaluation of spinal anomalies is limited. MRI is increasingly being used in the diagnosis of spinal anomalies. MRI has been able to show clearly the detailed anatomy of this rare case of type II diastematomyelia with triple splitting of the cord.

Introduction: The Clinical and radiological manifestations of newborns with severe VDD have not been studied well. Materials and Methods: We studied the clinical, biochemical, and radiological manifestations of 10 full-term (FT) newborns (6: M, 4: F) infant presented to with symptomatic hypocalcemia (seizure) secondary to vitamin D deficiency (VDD) during the first 10 days of life are described. All were exclusively breastfed since birth. All their mothers have low 25 hydroxy vitamin D (25OHD) level 60 ng/mL) and 60% had decreased magnesium (Mg) concentrations (