A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

“…For dystrophic epidermolysis bullosa, loss-of-function variants are typically associated with the autosomal recessive form, while missense variants are linked to the autosomal dominant form. …”
Get full text

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

“…Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. …”
Get full text

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
Get full text

Modern classification and molecular-genetic aspects of osteogenesis imperfecta by A. R. Zaripova, R. I. Khusainova

“…Osteogenesis imperfecta occurs in both men and women, the disease is inherited in both autosomal dominant and autosomal recessive types, there are sporadic cases of the disease due to de novomutations, as well as X-linked forms. …”
Get full text

Anesthesic Management for Escobar Syndrome: Case Report by Ayse Hande Arpaci, Fusun Bozkirli, Onur Konuk

“…Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. …”
Get full text

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report by Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq

“…ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. …”
Get full text

Cognitive Impairment in Genetic Parkinson’s Disease by A. Planas-Ballvé, D. Vilas

“…In this review, we summarize data regarding cognitive function on clinical studies, neuroimaging, and biological markers of cognitive decline in autosomal dominant PD linked to mutations in LRRK2 and SNCA, autosomal recessive PD linked to Parkin and PINK1, and also PD linked to GBA mutations.…”
Get full text

Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome by Osamah Abdullah AlAyed

“…Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. …”
Get full text

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

Congenital sideroblastic anaemia by Kavya Sree Velchuri, Mallikarjuna Shetty, Adiraju Krishna Prasad, Purna Surya Kiran Pentakota

“…Genetic analysis showed a known homozygotic mutation in the solute carrier family 25 member 38 (SLC25A38) gene that causes autosomal recessive sideroblastic anaemia (SBA).…”
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

Keratosis Palmoplantar-periodontopathy Syndrome – A Clinical Diagnostic Dilemma by Manjiri Uttam Joshi, Mukta Vijaykumar Vanjani, Manali Jagtap

“…Papillon–Lefevre syndrome is an autosomal recessive disorder distinguished mainly by a triad of palmar-plantar hyperkeratosis, aggressive periodontitis involving both deciduous and permanent dentition and intracranial calcifications. …”
Get full text