scholarly journals Idiopathic Gingival Hyperplasia: A Case Report with a 17-Year Followup

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Bien Lai ◽  
Joseph Muenzer ◽  
Michael W. Roberts
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Developmental Delay ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Gingival Hyperplasia ◽  
Dental Management ◽  
Gingival Hypertrophy ◽  
Static Encephalopathy

This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. The clinical dental management and attempts to obtain a genetic diagnosis are described.

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Reconceptualilzing agitation in autism as primary affective dysregulation: Case report and literature review of use of quetiapine in a patient with Treacher–Collins syndrome and autism

2017 ◽  
Vol 41 (S1) ◽  
pp. S434-S434
Author(s):  
R. Cosme ◽  
S. Dharmapuri
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Autistic Spectrum Disorder ◽  
Low Dose ◽  
Genetic Disorder ◽  
Treacher Collins Syndrome ◽  
Affective Dysregulation ◽  
Extant Literature ◽  
Competing Interest ◽  
Mandibulofacial Dysostosis

This case report describes the successful use of low dose quetiapine in the treatment of agitation in a patient with Treacher–Collins syndrome (TCS) and suspected autistic spectrum disorder (ASD). Results from this case report found better efficacy in controlling symptoms of agitation in ASD utilizing lower doses of quetiapine. TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature. There are reports of mandibulofacial dysostosis associated with co-morbid developmental delay that are similar but distinct from TCS, however these reports do not comment on the treatment of agitation in this patient population. The results described in this case report demonstrate a reduction of agitation with low dose quetiapine, and offers support for the reconceptualization of agitation in ASD as a primary affective dysregulation which is also in line with evidence from the extant literature regarding the neurobiologic basis of aggression.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

scholarly journals Down syndrome with congenital hydrocephalus: case report

2006 ◽  
Vol 64 (3b) ◽  
pp. 869-871 ◽  
Author(s):  
Cassiano Mateus Forcelini ◽  
Adroaldo Baseggio Mallmann ◽  
Paulo Sérgio Crusius ◽  
Cláudio Albano Seibert ◽  
Marcelo Ughini Crusius ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Case Report ◽  
Ventriculoperitoneal Shunt ◽  
Head Circumference ◽  
Genetic Disorder ◽  
Congenital Hydrocephalus ◽  
Dysmorphic Features ◽  
Abnormal Increase ◽  
Male Neonate

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.

scholarly journals Medical considerations in the dental treatment of patients with Williams-Beuren syndrome - report of four clinical cases

2015 ◽  
Vol 21 (2) ◽  
pp. 110
Author(s):  
Natália Silva Andrade ◽  
Cíntia Santos ◽  
Talita Castro ◽  
Marina Gallottini
Keyword(s):  
Mental Retardation ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Dental Treatment ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Behavioral Changes ◽  
Dental Management ◽  
School Of Dentistry ◽  
Syndrome Report

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by peculiar facies, eyes, dental, cardiovascular, renal, and skeletal abnormalities, mental retardation, friendly and loquacious personality, and occasionally hypercalcemia in infancy. The orofacial aspects and especially the dental management of these patients have received little attention in the literature. The aim of this manuscript is to describe four cases of patients with WBS attended at Special Care Dentistry Center, School of Dentistry, University of São Paulo, with emphasis on the oral findings and systemic conditions of dental interest. The clinical management of patients with WBS is discussed. We conclude that congenital heart defects and behavioral changes are the aspects that most interfere on dental treatment

scholarly journals Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

2021 ◽  
Author(s):  
Mahsa Alavi Namvar ◽  
Sona Rafieyan ◽  
Behzad Fathi Afkari
Keyword(s):  
Amino Acids ◽  
Mental Retardation ◽  
Case Report ◽  
Soft Tissue ◽  
Normal Population ◽  
Genetic Disorder ◽  
The Body ◽  
Mental Function ◽  
Lower Lip ◽  
Local Trauma

This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body. If left untreated, PKU can negatively affect mental function and cause retardation. Patients with PKU receive less oral examination compared to the normal population. Mucoceles are lesions formed by the accumulation of mucous of salivary glands in soft tissue by blockage or extravasation. Local trauma has been identified as the main cause of mucoceles development. Superficial mucoceles are rare in the lower lip. These patients need close oral and maxillofacial examination to find problems, which may be related to their systemic problem. Micro-marsupialization is a conservative therapeutic approach for management of pediatric oral mucoceles. Management of trauma in patients with mental retardation is an important issue.

scholarly journals Genetic Diagnosis in Children with Epilepsy and Developmental Delay/Mental Retardation Using Targeted Gene Panel Analysis

2018 ◽  
Vol 08 (05) ◽  
Author(s):  
Jao-Shwann Liang ◽  
Jinn-Shyan Wang ◽  
Li-Ju Lin ◽  
Ming-Tao Yang ◽  
Kun-Long Hung ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Developmental Delay ◽  
Genetic Diagnosis ◽  
Gene Panel ◽  
Panel Analysis

scholarly journals Williams–Beuren-szindróma (Williams-szindróma)

2017 ◽  
Vol 158 (47) ◽  
pp. 1883-1888 ◽  
Author(s):  
Györgyi Miklós ◽  
György Fekete ◽  
Irén Haltrich ◽  
Miklós Tóth ◽  
Péter Reismann
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intellectual Disability ◽  
Genetic Analysis ◽  
Ethnic Groups ◽  
Williams Syndrome ◽  
Social Behaviour ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Genetic Disorder

Abstract: Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients’ lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883–1888.

scholarly journals Ramon's Syndrome: A Rare Entity

2010 ◽  
Vol 1 (3) ◽  
pp. 199-204 ◽  
Author(s):  
Alexander LNU ◽  
Sherry Peter ◽  
Sheela Nampoothiri ◽  
Latha Rao ◽  
Ajith Nambiar ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Fibrous Dysplasia ◽  
Fragile X ◽  
Gingival Hyperplasia ◽  
Stunted Growth ◽  
The Face ◽  
Spontaneous Involution ◽  
Unerupted Teeth ◽  
Detailed Case Report

ABSTRACT Introduction Ramon et al in 1967 described a condition, which included mental retardation, fibrous dysplasia of the maxilla and stunted growth. De Pino et al described a Brazilian family of four who had the same features as that of Ramon's syndrome in association with juvenile arthritis. Cherubism was first described in 1933 by Jones as ‘familial multilocular cystic lesion of the jaws’, a rare benign fibroosseous disease of the jaws, which is transmitted as an autosomal dominant trait. Affected children usually present before five years of age with painless progressive swelling of the cheeks, frequently associated with dental malformations. It progresses until puberty, and shows partial or complete spontaneous involution in adulthood; therefore, management is mostly conservative. The condition was initially characterized as familial, particularly as a form of craniofacial fibrous dysplasia. The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, Ramon syndrome, and Fragile X syndrome, mental and physical deformities may be seen. Case Report This is a case report of a 12-year-old boy who reported with a massive painless bilateral swelling of the face, which has been increasing since the age of 2 years. The patient had multiple unerupted teeth, gingival hyperplasia, hearing loss and mental retardation. A detailed case report, including the histopathology, radiographic features (extraoral, CT and MDCT), and management of the case will be discussed in detail.

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