Kartagener Syndrome: A Rare Cause of Infertility by Kadir Bakay, Davut Güven, İdris Koçak

“…Kartagener’s syndrome is defined as motility dysfunction of the epithelial cilia lining the respiratory tract, fallopian tubes and the flagella of the sperm and genetically classified as a rare autosomal recessive disease consisting almost half of all primary ciliary dyskinesia cases. …”
Get full text

Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report by Neerja Gupta, Anita Kaul, Madhulika Kabra

“…Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. …”
Get full text

Scalp-Ear-Nipple Syndrome: A Case Report by Estela Morales-Peralta, Vivian Andrés, Dainé Campillo Betancourt

“…We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.…”
Get full text

Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas by Mehmet Demirdöven, Hamza Yazgan, Mevlit Korkmaz, Arzu Gebeşçe, Alparslan Tonbul

“…Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. …”
Get full text

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. …”
Get full text

Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria by Vera Froes, Hugo Afonso, Zita Gameiro

“…Homocystinuria is a rare autosomal recessive metabolic disorder due to a defect in the cystathionine β-synthase (CBS) that leads to high homocysteine plasma levels. …”
Get full text

Musculoskeletal Manifestations of Sickle Cell Anaemia: A Pictorial Review by A. Ganguly, W. Boswell, H. Aniq

“…Sickle cell anaemia is an autosomal recessive genetic condition producing abnormal haemoglobin HbS molecules that result in stiff and sticky red blood cells leading to unpredictable episodes of microvascular occlusions. …”
Get full text

Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia by Milla Huuhka, Aaro Turunen

“…Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). …”
Get full text

Bilateral Recurrent Laryngeal Nerve Palsy following Total Thyroidectomy in Triple A Syndrome, an Unexpected but Critical Complication by Mathieu Chamberland, Marc-Antoine Poulin, Danielle Beaudoin

“…Triple “A” syndrome (TAS) is a rare autosomal recessive disorder that presents in childhood with achalasia cardia, alacrima, ACTH-resistant adrenal insufficiency, with sensorimotor and autonomic polyneuropathy developing later in the course of the disease. …”
Get full text

Levodopa Responsive Parkinsonism in Patients with Hemochromatosis: Case Presentation and Literature Review by Tarun Girotra, Abhimanyu Mahajan, Christos Sidiropoulos

“…Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. …”
Get full text

Cereblon: A Protein Crucial to the Multiple Functions of Immunomodulatory Drugs as well as Cell Metabolism and Disease Generation by Qinglin Shi, Lijuan Chen

“…It is well known that cereblon is a key protein in autosomal recessive nonsyndromic mental retardation. Studies have reported that it has an intermediary role in helping immunomodulatory drugs perform their immunomodulatory and tumoricidal effects. …”
Get full text

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome by Nicholas Beckmann

“…Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. …”
Get full text

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2) by Rami A. Misk, Lama Qawasme, Fawzy M. Abunejma, Bahaa Ibrahim Abu Rahma, Ehab Mohammad Abuawwad, Raja Imad Abu Iram, Abdulrahman Hussein Karaki, Tareq Z. Alzughayyar, Jihad Samer Zalloum

“…A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. …”
Get full text

Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations by Shooq Alkhalifa, Aysha Darwish, Mohamed Awadh, Salman M. Alkhalifa, Abdulla Darwish

“…Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. …”
Get full text

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia by Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid

“…Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. …”
Get full text

Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea by Leah May Roberts, Bruce Carnivale

“…Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. …”
Get full text

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature by Kwo Wei David Ho, Nivedita U. Jerath

“…Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. …”
Get full text

Prenatally suspected and clinically diagnosed congenital chloride diarrhea by Mesfin Ayalew Tsegaye, MD, Abel Benti Abchale, MD, Alemayehu Nigusssie Adugna, MD

“…Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. …”
Get full text

Meckel Gruber Syndrome- A Case Report And Review of Literature by Sümeyra Nergiz, Selda Demircan Sezer, Sündüz Özlem Altınkaya, Mert Küçük, Hasan Yüksel

“… Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive disorder. MGS is thought to be caused by ciliary dysfunction. …”
Get full text

Epidermodysplasia Verruciformis: A Clinicopathologic Review of Two Cases by Tummidi Santosh, Tanya Sharma, Deepti Joshi, Dinesh Prasad Asati, Sanjeev Vijay Choudhary, Neelkamal Kapoor

“…Epidermodysplasia verruciformis (EV) is a rare autosomal recessive disease involving the immune system. …”
Get full text