An experience with Foot Macrodactyly: A case report and review of literature

Macrodactyly is a rare congenital malformation with clinical manifestations such as enlargement of soft tissue and osseous elements. It causes various health issues such as pain, difficulty in wearing shoes, impairment in ambulatory ability and gait development, aesthetic problem, and psychological issues. The aetiology of macrodactyly is ambiguous; however, its association with PIK3CA /AKT1 genes has been reported recently. In the present study, a rare congenital macrodactyly of second and third toe of right foot along with deformed leg in 16-year-old girl has been reported. A progressive increase in the size of the second and third toe of the right foot and deformed reddish swollen area on the same lower leg below knee was seen in the patient. The malformation was present at the time of birth and at the age of one year the patient was operated for macrodactyly, but again the toe progressively increased to the previous size. She was presented with multiple health problems. There was no positive family history and/or other congenital malformation. Thus, it was suggested that due to variable phenotypic manifestations, appropriate treatment should be chosen for the patient individually.

Genotype-phenotype correlation in clubfoot (talipes equinovarus)

Clubfoot (talipes equinovarus) is a congenital malformation affecting muscles, bones, connective tissue and vascular or neurological structures in limbs. It has a complex aetiology, both genetic and environmental. To date, the most important findings in clubfoot genetics involve PITX1 variants, which were linked to clubfoot phenotype in mice and humans. Additionally, copy number variations encompassing TBX4 or single nucleotide variants in HOXC11, the molecular targets of the PITX1 transcription factor, were linked to the clubfoot phenotype. In general, genes of cytoskeleton and muscle contractile apparatus, as well as components of the extracellular matrix and connective tissue, are frequently linked with clubfoot aetiology. Last but not least, an equally important element, that brings us closer to a better understanding of the clubfoot genotype/phenotype correlation, are studies on the two known animal models of clubfoot—the pma or EphA4 mice. This review will summarise the current state of knowledge of the molecular basis of this congenital malformation.

CONGENITAL MALFORMATION OF THE CENTRAL NERVOUS SYSTEM : INCIDENCE, MANAGEMENT AND OUTCOME

INTRODUCTION MATERIAL AND METHODS This study has been conducted on the patients suffering from the congenital malformations of the central nervous system attending/admitted in the department of Surgery/ Pediatrics /Neurosurgery, Nehru hospital, B.R.D. Medical College, Gorakhpur for a period of 12 months. CONCLUSION

Meckel’s Diverticulum, A Unique Presentation in the Neonate

Meckel’s diverticulum (MD) is the most prevalent gastrointestinal congenital malformation, occurring in 2% to 4% of all live births. Typical symptoms of MD include intestinal bleeding and bowel obstruction, but MD can also present with many atypical symptoms of varying severity, posing a diagnostic challenge with severe complications if left untreated. Neonates presenting with symptomatic MD are uncommon. In this report, we describe a neonatal case of MD in which the patient presented with atypical symptoms including distended abdomen and constipation mimick necrotizing enterocolitis. This case emphasizes the importance of clinically correlating a provisional diagnosis while maintaining a broad differential, including uncommon conditions in this age group such as MD.

Parents’ perceived knowledge and beliefs on congenital malformations and their causes in the Amhara region, Ethiopia. A qualitative study

Introduction Knowledge and beliefs of people on congenital malformations and their causes differ from society to society. As a result, there is a paucity of understanding community perceived knowledge and beliefs towards congenital malformations and their risk factors among children’s parents. Therefore, I sought to identify perceived knowledge and beliefs of parents on congenital malformations and their causes. Methods An in-depth discussion and interview were carried out on purposively selected forty participants (women and men) in the Amhara region, Ethiopia. The data were collected from June to July, 2015. Semi-structured guiding topics/questions were used during the discussions and in-depth interviews. Note and audio records were taken while the participants discussed the topics. After the discussions and in-depth interviews were completed, the transcripts were read repeatedly to understand the participant’s words, phrases, ideas, and concepts. Then notes were taken to combine pieces of similar transcripts. I have employed thematic framework analysis. The relevant transcripts were scrutinized, labeled and coded manually based on their relevance to the objective of the study. Then the coded transcripts were determined and categorized according to the type of thematic variables. Results The participants responded on three aspects of lived experience, perceived knowledge and beliefs on congenital malformations and their causes. Nearly half of the participants’ beliefs on the causes of congenital malformations were related to sin, contraceptive pills, un-prescribed drugs/medication use, and fertilizers (that is eating crops grown by using fertilizers). Almost all said that raising a child with a major congenital malformation was very difficult. About half of the participants’ belief on congenital malformations were traditional and resulted from poor awareness. Conclusion The findings of the present study highlight the challenges and impacts of congenital malformations on parents who had children with and without congenital malformation. Lived experience, perceived knowledge and beliefs of children parents on congenital malformation and their causes can be helpful information for designing preventive actions. Hence, planning a preventive strategy and providing health education on congenital malformations and their causes for children parents are very necessary.

Acalvaria in a Malian girl: a new surviving case

Acalvaria is a rare and lethal congenital malformation characterized by the absence of the cranial vault bones, dura mater and associated muscles with complete cranial content. We report a 5-year-old Malian girl seen at 20 months old for facial dysmorphia, hemiparesis, and a cranial bone defect that improved progressively.