scholarly journals Dental Management of a 14-Year-Old with Cockayne Syndrome under General Anesthesia

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Divya Gaddam ◽  
Mukesh Singh Thakur ◽  
Niranjani Krothapalli ◽  
Saujanya Kaniti
Keyword(s):  
Adipose Tissue ◽  
Mental Retardation ◽  
Dental Caries ◽  
General Anesthesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Common Finding ◽  
Dental Management ◽  
Cockayne's Syndrome ◽  
Dental Rehabilitation

Cockayne’s syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. Dental rehabilitation of a 14-year-old male with Cockayne’s syndrome is presented.

scholarly journals MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

2006 ◽  
Vol 14 (5) ◽  
pp. 543-548 ◽  
Author(s):  
Daniel J Hampshire ◽  
Mohammed Ayub ◽  
Kelly Springell ◽  
Emma Roberts ◽  
Hussain Jafri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Autosomal Recessive Disorder ◽  
Truncal Obesity

scholarly journals Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Lorna Hirst ◽  
Gehan Abou-Ameira ◽  
Simon Critchlow
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Bone Dysplasia ◽  
Hypophosphataemic Rickets ◽  
Tertiary Referral Hospital ◽  
Street Hospital ◽  
Great Ormond Street Hospital ◽  
Dental Management ◽  
Raine Syndrome

Raine Syndrome (RS) also referred to as lethal osteosclerotic bone dysplasia describes an exceptionally rare autosomal recessive disorder with an estimated prevalence of <1 in 1,000,000. Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. The dental sequelae of hypophosphataemic rickets are significant. Spontaneous recurrent abscesses on noncarious teeth result in significant odontogenic pain and multiple dental interventions. The dental presentations of nonlethal RS are less widely described within the literature. Amelogenesis Imperfecta (AI), however, was recently postulated as a key characteristic. This article presents the dental manifestations and extensive restorative and oral surgical intervention of three siblings with hypophosphataemic rickets secondary to Raine Syndrome treated at Great Ormond Street Hospital for Children, a tertiary referral hospital.

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.

scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

A case report of seckel syndrome

2018 ◽  
Vol 10 (2) ◽  
pp. 39-42
Author(s):  
Chaitanya R Uppin
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Birth Weight ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Narrow Face ◽  
Seckel Syndrome ◽  
Small Head ◽  
Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

scholarly journals DENTAL MANAGEMENT OF A PEDIATRIC PATIENT WITH KINDLER SYNDROME- A REVIEW

2021 ◽  
pp. 32-34
Author(s):  
Kapil Gandhi ◽  
Ritika Malhotra ◽  
Shabana Alam ◽  
Pallavi Shrivastava ◽  
Babita Jangra ◽  
...  
Keyword(s):  
Dental Caries ◽  
Bone Loss ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Skin Changes ◽  
Kindler Syndrome ◽  
Dental Management ◽  
Skin Fragility ◽  
Periodontal Bone Loss ◽  
Cutaneous Atrophy

Kindler syndrome is a rare autosomal recessive genetic disorder which is a form of Epidermolysis Bullosa. It is characterized by skin fragility and acral blister formation beginning at birth. We hereby present a case of Kindler syndrome. The case is being reported for its rarity and a number of general features like blistering, cutaneous atrophy, and/or poikilodermatous skin changes and oral features such as gingival swelling, advanced periodontal bone loss, mild-to-severe gingivitis, dental caries, and leukokeratosis of buccal mucosa along with its management.

scholarly journals Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

1970 ◽  
Vol 13 (1) ◽  
pp. 97-99
Author(s):  
Monzoor Quader ◽  
Mohammad Syedul Islam ◽  
Quazi Mamatz Uddin Ahmed ◽  
Md Abul Kalam Azad ◽  
Md Abdur Rahim
Keyword(s):  
Diabetes Mellitus ◽  
Renal Cell Carcinoma ◽  
Mental Retardation ◽  
Central Obesity ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Learning Difficulty ◽  
Bardet Biedl Syndrome ◽  
Increased Risk

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10083 JOM 2012; 13(1): 97-99

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