AI Article Synopsis
- The text discusses a rare case of Bartsocas Papas Syndrome, which is a severe genetic condition inherited in an autosomal recessive manner.
- The case comes from a consanguineous family in Pakistan and features typical physical anomalies in the face, limbs, and genitalia, along with a specific heart condition called peripheral pulmonary stenosis.
- It is recommended that antenatal diagnosis be considered for similar cases, along with the option to terminate the pregnancy if necessary.
Article Abstract
We report a rare case of Bartsocas Papas Syndrome, a lethal autosomal recessive type of Popliteal Pterigium syndrome, from a consaguineous Pakistani family who had typical anomalies of face, limbs and genitalia with additional peripheral pulmonary stenosis. Antenatal diagnosis and option for termination of pregnancy is advised.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The Incidence of Early Postoperative Complications Following Modified Radical Mastectomy in Breast Cancer Patients.
Cureus
December 2024
Surgical Oncology, Benazir Bhutto Hospital, Rawalpindi, PAK.
Introduction Breast cancer is considered the most common malignant tumor in women, and incidence rates have risen progressively over the last decades. Modified radical mastectomy (MRM) is an effective treatment option. This research sought to establish the frequency, causes, and distribution of postoperative complications that are associated with MRM in the Pakistani population suffering from breast cancer.
View Article and Find Full Text PDFIdentifying genetic susceptibility loci associated with human coronary artery disease.
PLoS One
January 2025
Division of Life Science, Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong, China.
Coronary artery disease (CAD) is a multigenic condition influenced by both nature and nurture (60% to 40%). Prognosis of CAD is based on familial patterns. This study examined and analyzed the susceptibility of CAD to genetic variants in various Pakistani families.
View Article and Find Full Text PDFGenetic Heterogeneity in Four Probands Reveals , , and Related Neurodevelopmental Disorders.
Biomedicines
November 2024
Translational Genomics Laboratory, Department of Biosciences, COMSATS University, Islamabad 45550, Pakistan.
: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development. : We present whole exome sequencing analysis and expression characteristics of the probands from four unrelated Pakistani consanguineous families with facial dysmorphism, neurodevelopmental, ophthalmic, auditory, verbal, psychiatric, behavioral, dental, and skeletal manifestations otherwise unexplained by clinical spectrum. : Whole exome sequencing identifies a novel, bi-allelic, missense variant in the gene [NM_152419.
View Article and Find Full Text PDFPhenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Genes (Basel)
December 2024
Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Background: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease.
View Article and Find Full Text PDFBackground: Poverty is both a cause and a consequence of poor health, and the scarcity of resources limits access to essential health care services.
Aim: To highlight the implications on health of the often-neglected social determinants.
Methods: We examined the experiences of Shahida Parveen, a middle-aged, unmarried woman, living in a resource-poor setting in Rawalpindi, Pakistan, and the interplay of the social determinants and inadequate safety nets on her health and wellbeing.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!