scholarly journals Dental anomalies of a child with incontinentia pigmenti: Case report

2021 ◽  
Vol 10 (9) ◽  
pp. e50310917482
Author(s):  
Wanessa Fernandes Matias Regis ◽  
Beatriz Gonçalves Neves ◽  
Ramille Araújo Lima ◽  
Francisco Ruliglésio Rocha ◽  
Lidiany Karla Azevedo Rodrigues
Keyword(s):  
Case Report ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Incontinentia Pigmenti ◽  
Dental Anomalies ◽  
Tooth Abnormalities ◽  
Keywords Child

Incontinentia Pigmenti is a rare multi-system dominant genetic disorder caused by a mutation of the IKBKG/NEMO gene, localized on the X-chromosome, locus Xq28, characterized by dermatological, ocular, neurological, and dental alterations. This case report shows Incontinentia Pigmenti dental findings and emphasizes the importance of the dentist's knowledge about these anomalies so that the patient can be regularly monitored throughout the development of the dentition. Keywords: Child, Incontinentia Pigmenti, Tooth Abnormalities.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Paola E. Leone ◽  
Verónica Yumiceba ◽  
Ariana Jijón-Vergara ◽  
Andy Pérez-Villa ◽  
Isaac Armendáriz-Castillo ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Genomic Analysis ◽  
Common Finding ◽  
Mild Intellectual Disability ◽  
First Case ◽  
Conventional Cytogenetics

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals Associated dental anomalies: case report

2005 ◽  
Vol 13 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Daniela Gamba Garib ◽  
Nildiceli Leite Melo Zanella ◽  
Sheldon Peck
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Genetic Control ◽  
Treatment Planning ◽  
Interesting Case ◽  
Clinical Implications ◽  
Dental Anomalies ◽  
Dental Abnormalities ◽  
Developmental Disturbances ◽  
Shared Genetic

Certain human dental anomalies frequently occur together, supporting the accumulated evidence of the shared genetic control of dental developmental disturbances. The present study reports a rare and interesting case of a 12-year-old girl with an association of multiple dental abnormalities, including agenesis, tooth malposition and delayed development. The etiology and treatment planning are discussed with reference to the literature. The clinical implications of genetically controlled patterns of dental anomalies are important in the establishment of early diagnosis and appropriate orthodontic intervention.

Talon cusp associated with other dental anomalies: a case report

2004 ◽  
Vol 14 (4) ◽  
pp. 295-300 ◽  
Author(s):  
J. K. DASH ◽  
P. K. SAHOO ◽  
S. N. DAS
Keyword(s):  
Case Report ◽  
Dental Anomalies

scholarly journals Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome

2006 ◽  
Vol 64 (4) ◽  
pp. 1023-1026 ◽  
Author(s):  
Mônica Jaques Spinosa ◽  
Paulo Breno Noronha Liberalesso ◽  
Simone Carreiro Vieira ◽  
Alaídes Susana Fojo Olmos ◽  
Alfredo Löhr Júnior
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Refractory Epilepsy ◽  
Genetic Disorder ◽  
Ductus Arteriosus ◽  
Ambiguous Genitalia ◽  
Second Child ◽  
Neonatal Onset ◽  
The Right ◽  
Male Genotype

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals Brugada Syndrome: Presentation and Management of the Atypical Patient in the Emergent Setting

2020 ◽  
Vol 4 (2) ◽  
pp. 251-254
Author(s):  
Alexander Nguyen ◽  
Mario Flores ◽  
Vilmogil Tano
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Genetic Disorder ◽  
Atypical Presentation ◽  
Electrical System ◽  
Southeast Asians ◽  
Hispanic Male

Introduction: Brugada syndrome is a genetic disorder of the heart’s electrical system that increases a patient’s risk of sudden cardiac death. It is a syndrome most prevalent in Southeast Asians and is found 36 times more commonly in Asians than in Hispanics. Case Report: We report and discuss a case of a 68-year-old Hispanic male who presented with clinical and electrocardiogram abnormalities consistent with Brugada syndrome. Discussion: The patient’s age and ethnicity represents an atypical presentation of this rare syndrome and the lack of reported studies in the literature pertaining to these demographics reflect this. Conclusion: Further studies and characterizations are necessary as manifestations continue to be unearthed. As such, Brugada Syndrome should be considered in the differential diagnosis for a myriad of patient populations.

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