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Background: Macrocephaly is a condition where the head circumference is larger than the 97th percentile or 2 standard deviations. It can be a harmless trait in benign familial macrocephaly or can be seen as a component of some pathologic condition. In this article, we aimed to uncover the genetic background and clinical presentation of macrocephaly. Methods: In this retrospective study, we selected macrocephaly patients with a definitive genetic diagnosis, among 2,000 patients who were admitted to our clinic between 2014 and 2019. The data were accessed from archive. Results: The genetic testing results showed that the most common genetic causes of macrocephaly in the patients were achondroplasia (25%), neurofibromatosis type 1 (12.5%), Sotos syndrome type 1 (12.5%), and Cowden syndrome (12.5%). Conclusion: Several congenital conditions, chromosomal anomalies, and molecular mutations may cause macrocephaly. A combination of good clinical history, physical examination, and genetic testing plays a vital role in the... Continue Reading

Background: Religion/spirituality plays a vital role in most aspects of Muslims' lives. However, there has been little research on the part of religion/spirituality in health professionals' clinical experience with patients with genetic disorders, including long QT syndrome. Methods: This qualitative study explored health professionals' views working in Saudi Arabia concerning the role of Islam in their clinical practice. Semi-structured interviews were undertaken with 12 health professionals from two cardiogenetic centers in Saudi Arabia. Results: The participants included clinical geneticists (4/12), genetic counselor (1/12), molecular geneticists (2/12), cardiologists (3/12), and patient coordinators (2/12). The data were analyzed using thematic analysis, and three main themes were identified: (1) the value attributed to religion/spirituality in the context of genetic counseling, (2) professional and patient-level barriers to formal religious assessment and conversations in the context of genetic counseling, and (3) incorporating religion/spirituality into genetic counseling sessions. Conclusion: The study sheds light on the advantages... Continue Reading

Background: Osteoporosis is the bone disease characterized by demineralization of the bone. One of the most important genetic factors responsible for the osteoporosis is the vitamin D receptor (VDR) gene polymorphism. A translocation polymorphism which changes the codon from ATG to ACG has been associated with bone mineral density (BMD) variation and severity of the disease in patients of osteoporosis. The objective of the study was to find association of VDR Fok1 polymorphism with bone mineral density Methods: This case control study was design to find the association of the VDR Fok1 polymorphism with bone health in Pakistani osteoporotic patients. The study was conducted at Islamabad Diagnostic center from 2014 to July 2016. Total of 156 participant (osteoporatic patients n = 78 and normal health controls n = 78 case control) were enrolled in the study. Polymerase chain Reaction restriction length polymorphism (PCR-RFLP) was used to genotype VDR Fok1 polymorphism.... Continue Reading

Thyroid cancer (TC) is the most common endocrine malignancy worldwide, with an annual incidence of around 300,000 cases. In recent decades, the incidence of TC in many countries, including Saudi Arabia, has increased significantly. Genomics has allowed multiple mutations to be examined simultaneously across multiple genes, providing a detailed genomic profile for a given tumor. It is understood from a molecular perspective that different signaling pathways may have genetic abnormalities as the primary factors in thyroid tumorigenesis. While there is still early progress in the usage and standardization of targeted next-generation sequencing (NGS) in TC, a major ongoing study to distinguish malignant from benign thyroid nodules from fine-needle aspiration (FNA) has shown promising results that can prevent unnecessary surgery, based on NGS analyses of mutations and gene fusions associated with most TC. The differential diagnosis and malignancy risk stratification of TC require multidisciplinary skills and experience of both ultrasound and... Continue Reading

Very rare, peculiar congenital bleeding disorders are usually dealt with in clinics without giving much importance. We think that this practice is not correct since the disorders may often provide useful information about blood coagulation. In this review, we assess very rare bleeding conditions. We refer to the defects of the fibrinolytic system, alpha 1-antitrypsin Pittsburg, few dysprothrombinemias, east Texas or short FV defect, FIX Padua, and thrombomodulin (TM) abnormality. These defects are usually not included in rare bleeding disorders. Patients were gathered from two sources: personal files and two time-unlimited PubMed searches carried out on February 2010 and July 2019. Combined defects were disregarded. These rare bleeding conditions are often unrecognized even though some of them, such as antiplasmin deficiency, are not that rare with more than 30 cases reported already. The underevaluation of the fibrinolytic defects is due to the decrease in the use of methods capable of... Continue Reading

Hemoglobinopathies constitute the most frequent, inherited single-gene disorders. Its prevalence is increasing substantially and might cause a substantial economic burden on affected families and countries. The current study findings recommend population screening strategies to be implemented for severe disorders such as sickle-cell disease, hemoglobin E disease, α- and β-thalassemia, and normal individuals to identify the carrier status and manage the disease pathogenesis. In addition, national registries should highlight the information and contribute to the proper management and care of patients suffering from hemoglobinopathy. Furthermore, the Saudi Government should provide a conceptual framework to determine the specific preventive strategies to manage the incidence of hemoglobinopathies effectively. Continue Reading

Background: Opsismodysplasia (OPSMD) is an extremely rare and severe autosomal recessive skeletal dysplasia that is under the category of severe spondylodysplastic dysplasia. It is characterized by delayed bone maturation, and affected patients are identified by a peculiar craniofacioskeletal dysmorphism in the form of wide anterior fontanelle, depressed nasal bridge, anteverted nares, and short limbs and feet. Radiologically, they are characterized by severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. Case Presentation: We present the clinical and radiological features of a 14-month-old boy with a homozygous, likely pathogenic variant in INPPL1 gene c.2627dup (p.Pro977Thrfs*7) consistent with the diagnosis of OPSMD. He also has dilated cardiomyopathy. Conclusion: OPSMD is an uncommon form of skeletal dysplasia that should be suspected in the context of short stature with characteristic radiological features. Up to now, no definitive therapeutic measures are available, and hence preventive measures are essential in the management of families with... Continue Reading

Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this purpose has resulted in the identification of many new microdeletion and microduplication regions connected with these clinical situations, including the 1q21.1 and 14q32.2q32.31 microdeletions. Case Presentation: A 5-year-old male patient came to the clinic because of ID, hyperactivity, growth retardation, and speaking difficulty. We determined strabismus on both the eyes, and he was myopic. He had a high palate, little, and sparse teeth. On the right hand, there was a simian line. Both undescended testes were brought down with surgery. In addition, he had got an inward penis head. He had joint laxity in most of the joints. He had pes planus and talipes valgus. Therefore, we decided to make array-comparative genomic hybridization analysis and the result came... Continue Reading

Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. It has a compound of features due to the accumulation of hyaline material in multiple organs including characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive. The resulting severe malnutrition can be the cause of death in early infancy. Due to its rarity and early high fatality rate, timely diagnosis is difficult, and children with ISH may die undiagnosed. Case Presentation: In this report, we describe a 3-year-old female diagnosed with ISH after reviewing her clinical and laboratory workup in Salmaniya Medical Hospital. She was diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, and later developed renal tubular acidosis. Her diagnosis was confirmed with skin histopathology... Continue Reading

Background: Down Syndrome is a genetic disorder caused by abnormal cell division, resulting in extra genetic material from chromosome 21. Non-homologous Robertsonian translocation (RT) between chromosomes 13 and 14 is a common genetic abnormality seen in couples with reproductive failure. The present report highlights the co-occurrence of Down Syndrome with RT of chromosomes 13 and 14. Case Presentation: A 6-month-old male child, born to second-degree consanguineous parents, was referred to our institute for the conventional karyotyping method. Peripheral blood cultures were set up following the standard protocol for karyotype analysis, which revealed Down Syndrome and non-homologous RT between chromosomes 13 and 14 in the child, inherited from his mother. A normal karyotype was found in the father. Conclusion: The study highlights the importance of cytogenetic analysis in detecting additional chromosomal abnormalities in syndromic children. Continue Reading