Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

1997 ◽  
Vol 100 (2) ◽  
pp. 230-235 ◽  
Author(s):  
H. Scheffer ◽  
Rein P. Stulp ◽  
Edwin Verlind ◽  
M. van der Meulen ◽  
Leena Bruckner-Tuderman ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Collagen Type ◽  
Autosomal Recessive Disorder ◽  
Haplotype Sharing ◽  
Rare Autosomal Recessive Disorder

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (1) ◽  
pp. 135-137
Author(s):  
Renata Hubner Frainer ◽  
Luciana Boff de Abreu ◽  
Giselle Martins Pinto ◽  
André Vicente Esteves de Carvalho ◽  
Luana Pizarro Meneghello
Keyword(s):  
Macular Degeneration ◽  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Recognition ◽  
Association Studies ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy ◽  
Rare Autosomal Recessive Disorder ◽  
Ocular Defect ◽  
Eye Examination

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.

scholarly journals Multiple Nail Candidosis in a Child with APECED Syndrome

2019 ◽  
Vol 4 (1) ◽  
pp. 01-01
Author(s):  
Chaouche M ◽  
Dah Cherif A ◽  
Barbach Y ◽  
Gallouj S ◽  
Mernissi FZ
Keyword(s):  
Early Childhood ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Tissue Specific ◽  
Rare Autosomal Recessive Disorder ◽  
Mucocutaneous Candidiasis ◽  
Classic Triad ◽  
Autoimmune Polyendocrinopathy ◽  
Dermatological Disorders

The APECED syndrome (autoimmune polyendocrinopathy, candidosis, ectodermal dystrophy) is a rare autosomal recessive disorder that develops in early childhood and results in tissue-specific multiorgan autoimmunity, leading to the hypofunction of multiple glands. Is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. We report a case in a child, illustrating the importance of dermatological disorders.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran

2016 ◽  
Vol 29 (8) ◽  
Author(s):  
Mahnaz Seifi-Alan ◽  
Roshanak Shamsi ◽  
Aria Setoodeh ◽  
Fatemeh Sayarifard ◽  
Parisa Aghasi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrinopathy

AbstractAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (

Clinical and Microscopic Hair Features of Griscelli Syndrome Associated with Asymmetric Crying Facies in an Infant

2008 ◽  
Vol 11 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Mustafa Akcakus ◽  
Esad Koklu ◽  
Nazmi Narin ◽  
Mehmet Kose
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Partial Albinism ◽  
Griscelli Syndrome ◽  
Depressor Anguli Oris

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism. Asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Asymmetric crying facies may be isolated or it may be associated with various anomalies. We report a 3-month-old Turkish boy who had clinical and microscopic hair features of GS associated with ACF. To the best of our knowledge, this is the 1st case of this association to be reported in the literature.

scholarly journals Severe Infantile Transaldolase Deficiency

2019 ◽  
pp. 1-5 ◽  
Author(s):  
Khaled Alqoaer ◽  
Ziad Asaad ◽  
Maisa Halabi
Keyword(s):  
Pentose Phosphate Pathway ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Pentose Phosphate ◽  
Early Presentation ◽  
Rare Autosomal Recessive Disorder ◽  
Poor Outcome

Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALDO deficiency.

Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

2021 ◽  
Author(s):  
Geetanjali Jain ◽  
Gourab Das ◽  
Rakhi Malhotra ◽  
Sateesh Ramchandran ◽  
Nagaraja M. Phani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Transient Receptor Potential ◽  
Receptor Potential ◽  
Autosomal Recessive Disorder ◽  
Cation Channel ◽  
Neonatal Seizures ◽  
Rare Autosomal Recessive Disorder ◽  
Novel Variants ◽  
Transient Receptor ◽  
Trpm6 Gene

AbstractHOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in TRPM6 gene.

scholarly journals Day Care General Anaesthesia for a Child with Bardet-Biedl Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-2 ◽  
Author(s):  
Suresh Chittoodan ◽  
Suzanne Crowe
Keyword(s):  
General Anesthesia ◽  
General Anaesthesia ◽  
Day Care ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Perioperative Period ◽  
Systemic Effects ◽  
Bardet Biedl Syndrome ◽  
Rare Autosomal Recessive Disorder

Bardet-Biedl syndrome is a very rare autosomal-recessive disorder with pan-systemic effects. The perioperative period may be hazardous for patients with this disorder. We describe the presenting features and management of a child who was scheduled for elective ambulatory general anesthesia and discuss the relevant points for the busy anesthesiologist.

ENT manifestations of Fraser syndrome

1992 ◽  
Vol 106 (1) ◽  
pp. 1-4 ◽  
Author(s):  
G. R. Ford ◽  
R. M. Irving ◽  
N. S. Jones ◽  
C. M. Bailey
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Subglottic Stenosis ◽  
Meatal Stenosis ◽  
Rare Autosomal Recessive Disorder ◽  
Fraser Syndrome ◽  
Consistent Feature ◽  
Choanal Stenosis ◽  
Sick Children

AbstractFraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.

Sign in / Sign up

Export Citation Format

Share Document