Introduction: Aims: To identify the Anorectal malformations patients in North Indian region and then study the karyotype of these patients to evaluate cytogenetic aberrations and then correlate it with the maternal age. Subjects and Methods: Forty eight patients of anorectal malformation were selected from Department of Paediatric Surgery, KGMU, UP, Lucknow. Blood samples were collected and their cytogenetic study was done in the Department of Anatomy, KGMU-U.P, Lucknow. Karyotypes obtained were further analysed. Results: Out of 48 children enrolled in the study, karyogram could be obtained for 45 cases (93.75%). Maternal age at the time of birth of the child was <30 years in 91.1% cases. There were only 8.9% women who were >30 years of age at the time of birth of the child. However, proportion of those with anomalies was significantly higher in >30 years age group (75%) as compared to that in <30 years age group (2.4%). Conclusion: Although low maternal age was found most commonly, but number of cases with chromosomal anomalies was reported more in >30 years of age, which could be due to increased risk of congenital anomalies and malformations with advanced age.
Background: Anorectal malformations (ARM) are congenital malformations of digestive system resulting from the disturbed development of hindgut during embryogenesis. ARMs involve both sexes; can occur either isolated or in association with other congenital abnormalities and may be associated with chromosomal abnormalities. Association of trisomy 21 with anorectal malformation is well documented. Present study was conducted to assess prevalence of association of trisomy 21 in patients with anorectal malformation.Methods: Total 48 children with diagnosis of anorectal malformation, who were admitted in Department of Paediatric Surgery, King George’s Medical University, Lucknow, Uttar Pradesh, were selected for the study. Blood samples were collected and their cytogenetic analysis was carried out in the Cytogenetics laboratory, Department of Anatomy, KGMU-U.P, Lucknow, India.Results: Among the 48 study subjects, karyogram could be successfully obtained for 45 cases (93.75%). Numerical anomalies were observed in 8.9% cases. Trisomy 21 was found in 6.7%. The prevalence of trisomy 21 was found to more in males (4.5%) as compared to females (2.2%). Prevalence was highest in birth order 3(20%), followed by birth order 2(7.14%) and lowest in birth order 1(3.85%). Trisomy in association with ARM; was observed in children born to females aged >30 years. It was found unrelated to the history of consanguinity.Conclusions: Prevalence of association of trisomy 21 with ARM was found to be 6.7%. This coexistence emphasizes the need for a thorough investigation of patients with ARM.
Background:The floor of middle cranial fossa shows several foramina through which vital neural and vascular structures pass. Thus, the knowledge of normal and variant anatomy of these foramina is important. One such foramen is Foramen ovale which allows the passage of certain important structures.
Aims and Objective:This study also aimed to provide a base line data to neurosurgeons for easy and safe approach to middle cranial fossa. Thus, to fulfill the above, the morphometric and morphologic characteristics of the foramenovalewere studied and the observed metric and non-metric parameters were compared with those of previous studies.
Materials and Methods:The study has been conducted on 160 adult non-pathological dry human skulls of unknown age and sex. Those parts of broken skulls were included in the study in which the area of Foramen ovale was intact. All the parameters were obtained by one observer only to avoid inter-observer error. The foramen ovale was identified and different metric and non-metric parameters were observed and measured.
Results:The most common shape on both sides was noted to be transversely oval. Out of 160 skulls, 2 skulls (1.25%) showed accessory FO bilaterally. 4 skulls showed divided FO on left side. Out of 4, 2 skulls( 1.25%) were noted to have bony bar and in 2 skulls (1.25%) the main FO were divided by bony plate.
Conclusion: The morphologic variations of Foramen Ovale in the form of accessory foramen and presence of bony bar / bony plate are common. This study will provide a baseline data as well as frequency of related variations in our population for a safer approach by the surgeons.
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