Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation by Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya

“…Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. …”
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Prenatal Diagnosis of Zellweger Syndrome: Case Report by Bilgin Kütükcü, Meral Topçu, Sinan Beksaç, Ronald J. Wanders

“… Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period. …”
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Anesthetic Approach for a Patient with Jeune Syndrome by Mehmet I. Buget, Emine Ozkan, Ipek S. Edipoglu, Suleyman Kucukay

“…Jeune syndrome (JS) is an autosomal recessive disease also known as asphyxiating thoracic dystrophy. …”
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Pycnodysostosis with Special Emphasis on Dentofacial Characteristics by Aisha Khoja, Mubassar Fida, Attiya Shaikh

“…Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. …”
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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

“…Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. …”
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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum by Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins

“…Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. …”
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Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges by Olga Domańska, Kinga Brzdęk, Michał Brzdęk, Szymon Wiśniewski, Wiktor Baran

“…The aim of the study was to summarise the latest reports on this autosomal recessive disorder. While typical mutations underlying the syndrome and their implications on cellular function have been elucidated, there are still many unknowns surrounding the disease. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. …”
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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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Neuropsychiatric disorders in Wilson’s disease: literature review by S. Galnaitytė, A. Musneckis

“… Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs. …”
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A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 by S. Pusti, N. Das, K. Nayek, S. Biswas

“…Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. …”
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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review by Sandra Sabbagh, Stephanie Antoun, André Mégarbané

“…Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. …”
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Congenital Aplasia Cutis. A Series of Three Cases by Elsy Roxana Geroy Moya, María Elena Quiñones Hernández, Ángel Serafín Camacho Gómez

“…It can appear in isolation or as part of several polymalformative syndromes, observing autosomal recessive and autosomal dominant inheritance patterns. …”
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Colonic Polyps in Children and Adolescents by Carol A Durno

“…The identification of MYH-associated polyposis as an autosomal recessive condition has important implications for screening and management strategies. …”
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Persistent Müllerian Duct Syndrome: Understanding the Challenges by Irene Chua, Naeem Samnakay

“…Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive condition defined by the presence of Müllerian duct-derived structures in an otherwise normally masculinized phenotypical and genotypical (46,XY) male. …”
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A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants by Kyle N. Goodman, Pongpratch Puapatanakul, Kevin T. Barton, Mai He, Jeffrey H. Miner, Joseph P. Gaut

“…Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. …”
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Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever by Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç

“…Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. …”
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Hypoxemic Bronchiolitis Related to Major Histocompatibility Class II Deficiency by S. Hammami, H. Besbès, S. Hadded, K. Lajmi, L. Ghédira, Ch. B. Meriem, M. N. Guediche

“…Major histocompatibility complex class II expression deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is the highest in Mediterranean areas, especially North Africa. …”
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Genetics of Nonsyndromic Congenital Hearing Loss by Oguz Kadir Egilmez, M. Tayyar Kalcioglu

“…Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). …”
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Trichoscopy in Unveiling the Triad of Netherton Syndrome by H Bangaru, D Ashwini

“…Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. …”
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