An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy by Shabana Kareem, Reemy Sara Mathai

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. …”
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Successful Aortic Aneurysm Repair in a Woman with Severe von Willebrand (Type 3) Disease by Victoria Campbell, Kevin Marriott, Rex Stanbridge, Abdul Shlebak

“…It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. …”
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Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family by E. M. Abdalla, H. Morsy

“…Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. …”
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Association of novel ERLIN2 gene variants with hereditary spastic paraplegia by R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. S. Yamanaka, J. Piqueras Flores, J. M. Flores Barragán, E. Buces González, J. D. Arroyo Andújar

“…Segregation analysis revealed that the patient’s two affected siblings carried both variants, whereas their offspring, carrying only one variant, were asymptomatic, indicating the autosomal recessive nature of the disease. These findings suggest that the identified variants can be classified as pathogenic when they are present as compound heterozygous variants.…”
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A Roadmap to the Brittle Bones of Cystic Fibrosis by Ashwini P. Gore, Soon Ho Kwon, Antine E. Stenbit

“…Cystic fibrosis (CF) is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. …”
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Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age by Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Çiğdem Aydoğmuş, Gönül Aydoğan, Sultan Kavuncuoğlu

“…Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. …”
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Physiotherapy and Rehabilitation in a Child with Joubert Syndrome by Özge İpek, Özge Akyolcu, Banu Bayar

“…Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. …”
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene by Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

“…Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. …”
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Acitretin Treatment for Lipoid Proteinosis by Özgür Gündüz, Neriman Şahiner, Pınar Atasoy, Çağrı Şenyücel

“…Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. …”
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Nephronophthisis: A Genetically Diverse Ciliopathy by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer

“…Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. …”
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The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness by Kristina Narfström, Koren Holland Deckman, Marilyn Menotti-Raymond

“…The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. …”
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Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report by Uliana V. Buyvalenko, Anna R. Levshina, Anna K. Eremkina, Kseniya A. Komshilova, Nadezhda M. Platonova

“…Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. …”
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An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome by JayaKrishna Chintanaboina, Pragnesh R. Shah, Thomas R. Riley

“…One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. …”
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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

“…Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. …”
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Histological Findings of ETosis in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis: A Follow-Up Case Report by Sergio Michael Navarro, Aneel Ashrani, Myung Soo Park, Dong Chen

“…Hermansky-Pudlak syndrome (HPS), both alone and in conjunction with pulmonary fibrosis (HPS-PF), is a rare, genetically heterogeneous, autosomal recessive disorder that affects multiple organs, including the lungs. …”

Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy by Vianey Q. Casarez, Acsa M. Zavala, Pascal Owusu-Agyemang, Katherine Hagan

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with deficiency of thymidine phosphorylase (TP). …”
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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis by Anneke B. Oostra, Aggie W. M. Nieuwint, Hans Joenje, Johan P. de Winter

“…The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. …”
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Antenatal Bartter Syndrome: A Review by Y. Ramesh Bhat, G. Vinayaka, K. Sreelakshmi

“…Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. …”
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A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance by Girma Deshimo, Haile Abebe, Getiye Damtew, Enguday Demeke, Seife Feleke

“…Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. …”
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