Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment by Khaled Hamed Salem, Alyaa Diaa Elmoghazy

“…Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. …”
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A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“…The majority of familial cases are autosomal recessive, with a female to male ratio of 3:1. …”
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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

“…We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these clinical features. …”
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Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis by Karolina Małgorzata Różycka, Beata Kuczyńska, Kinga Podsiadło, Małgorzata Mitura-Lesiuk, Irena Woźnica- Karczmarz

“…Factor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people. …”
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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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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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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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