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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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“… Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders which start in the intrauterine period and are inherited by autosomal recessive way. Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition by Jonathan W. Nyce

“…The autoinflammatory reaction observed closely resembles mevalonate kinase deficiency (MKD), a rare autosomal recessive disease in humans characterized by recurrent febrile attacks, arthralgia, skin rash, and aphthous ulcers of mucocutaneous tissues. …”
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Growth hormone treatment in congenital tufting enteropathy: a case report and literature review by Mehmet Ali Oktay, Mahmut Orhun Çamurdan, Ödül Eğritaş Gürkan, Başak Alan Tehçi, Esra Döğer, Aysun Bideci

“…This article aims to evaluate the effects of growth hormone (GH) therapy in a case with congenital tufting enteropathy (CTE). CTE is a rare autosomal recessive enteropathy that typically presents with persistent diarrhea. …”
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A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome by Tomoko Tanaka, Catharine J. Harris, Sarah S. Barnett, N. Scott Litofsky

“…Walker-Warburg syndrome (WWS) is a rare autosomal recessive congenital muscular dystrophy with brain malformations and ocular abnormalities that falls under the wider phenotypic spectrum of the dystroglycanopathies. …”
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Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

“…Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. …”
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Neurosurgical aspects of marble bone disease: treatment modalities and outcome by Mahmoud Mohammed Gamal, Roshdy Elkhayat, Hassan Mohammed Hassan

“…Osteopetrosis has 3 types of genetic inheritance either malignant autosomal recessive (ARO) which occur in childhood, intermediate ARO which occur in adolescence, and benign autosomal dominant osteopetrosis which occur in adults. …”
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Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia by Iovana Fuentes Cortés, Beliany Pacheco Suárez, Dulce María Charón Savón

“…<strong>Foundation:</strong> hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. …”
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Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients by Ugur Halac, Denise Herzog

“…Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy. …”
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Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene by María-Belén Moreno-Risco, Manuel Méndez, María-Isabel Moreno-Carralero, Ana-María López-Moreno, José-Manuel Vagace-Valero, María-José Morán-Jiménez

“…Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. …”
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Xeroderma Pigmentosum: Man Deprived of His Right to Light by Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

“…Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. …”
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Pyruvate Kinase Deficiency Causing Priapism by Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

“…Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. …”
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Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces by C. Gils, M.-C. Eckhardt, P. E. Nielsen, M. Nybo

“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
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Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model by Yasunori Sato, Xiang Shan Ren, Yasuni Nakanuma

“…Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). …”
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Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Homocystinuria is a rare autosomal recessive disorder that can cause hyperhomocysteinemia and hypercoagulability. …”
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Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure by Cem Sahin, Bulent Huddam, Gulhan Akbaba, Hasan Tunca, Emine Koca, Mustafa Levent

“…Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. …”
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Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report by Yuli Zhang, Yuli Zhang, Longfei Chen, Miao Duan

“…Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. …”
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Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
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A Case of Xanthoma of Bilateral Tendoachilles Reconstructed with Fascia Lata Graft X by S Jaikish, Balaji Sambandam

“…Aims and background: Cerebrotendinous xanthoma is an autosomal recessive disorder characterized by a lack of production of primary bile acids and accumulation of cholestanol in various tissues like the brain, spinal cord, peripheral nerves, eyes, and tendon in the form of xanthomas. …”
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