scholarly journals A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
K. N. Venkateshwara Prasad ◽  
Arvind Rajha ◽  
Pradeep Kumar Vegi
Keyword(s):  
Central Nervous System ◽  
Developmental Disorder ◽  
Monozygotic Twins ◽  
Goldenhar Syndrome ◽  
Craniofacial Anomalies ◽  
Hemifacial Microsomia ◽  
Disease Phenotype ◽  
Vertebral Anomalies ◽  
Central Nervous System Defects ◽  
Mz Twins

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

scholarly journals AN INSIGHT INTO - HEMIFACIAL MICROSOMIA

2021 ◽  
Vol 9 (09) ◽  
pp. 734-739
Author(s):  
Nivedita Sahoo ◽  
Rajat Mohanty ◽  
Arpita Singh ◽  
Bhagabati Prasad Dash ◽  
Kanika Singh Dhull
Keyword(s):  
Central Nervous System ◽  
Birth Defect ◽  
Autosomal Dominant ◽  
Branchial Arch ◽  
Craniofacial Anomalies ◽  
Hemifacial Microsomia ◽  
Dominant Inheritance ◽  
Familial Cases ◽  
Central Nervous System Defects ◽  
Insight Into

Hemifacial microsomia is a common birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

scholarly journals Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
U. D. Shrestha ◽  
S. Adhikari
Keyword(s):  
Congenital Cataract ◽  
Multidisciplinary Approach ◽  
Goldenhar Syndrome ◽  
Hemifacial Microsomia ◽  
Pediatric Ophthalmology ◽  
Pupillary Reflex ◽  
Craniofacial Microsomia ◽  
Branchial Arches ◽  
Vertebral Anomalies ◽  
Bilateral Congenital Cataract

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them.

OMENS-Plus: Analysis of Craniofacial and Extracraniofacial Anomalies in Hemifacial Microsomia

1995 ◽  
Vol 32 (5) ◽  
pp. 405-412 ◽  
Author(s):  
Joan E. Horgan ◽  
Bonnie L. Padwa ◽  
Richard A. Labrie ◽  
John B. Mulliken
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Statistical Analysis ◽  
Soft Tissue ◽  
Heart Defects ◽  
Multiple Organ ◽  
Structural Defects ◽  
Craniofacial Anomalies ◽  
Hemifacial Microsomia ◽  
Organ Systems

This review of 121 patients with hemifacial microsomia (HFM) revealed that 67 (55.4%) had extracraniofacial anomalies. Sixteen patients (13%) had one extracraniofacial anomaly and 51 patients (42.4%) had anomalies of multiple organ systems. There was no gender or side predominance in the cohort with the HFM “expanded spectrum.” Central nervous system (CNS), cardiac, and skeletal anomalies were “associated” (i.e., had frequencies of 10% or more). Pulmonary, gastrointestinal, and renal deformities were equivocally associated. Statistical analysis indicated significant associations between several orbital, mandibular, ear, neural, and soft tissue (OMENS) variables and extracraniofacial anomalies. Patients with extracraniofacial structural defects had higher OMENS grades for individual craniofacial anatomic categories. Furthermore, patients with expanded spectrum had higher total OMENS scores. The frequency of cardiac anomalies (26%) supports the model of neural crest involvement in the pathogenesis of both hemifacial microsomia and conotruncal defects. The majority of the heart defects in this study were of either the outflow or septal type. We propose that the OMENS classification system for craniofacial anomalies of HFM be expanded to OMENS-Plus (+) to designate the presence of associated extracraniofacial anomalies.

scholarly journals Oculo-auriculovertebral Spectrum with Radial Anomaly: A Rare Case Report

2016 ◽  
Vol 27 (2) ◽  
pp. 49-52
Author(s):  
Dileep Kumar ◽  
Anil Kumar Gupta ◽  
Siddharth Rai ◽  
Vijai Prakash Sharma
Keyword(s):  
Rare Case ◽  
Nerve Palsy ◽  
Developmental Disorder ◽  
Facial Nerve Palsy ◽  
Goldenhar Syndrome ◽  
Unilateral Hearing Loss ◽  
Rare Presentation ◽  
Branchial Arches ◽  
Rare Case Report ◽  
Vertebral Anomalies

Abstract Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the first and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral microtia, microphthalmia and facial nerve palsy along with vertebral anomalies with additional signs as unilateral hearing loss and radial limb anomalies. OAVS with radial defect and limb abnormalities is a rare presentation and thus reported‥

Virtual ultrasound embryo autopsy – myth or reality? Part 1

2017 ◽  
Author(s):  
A.Yu. Blinov
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Medical Imaging ◽  
Embryonic Development ◽  
Human Embryos ◽  
Review Of Literature ◽  
Embryonic Period ◽  
New Methods ◽  
Central Nervous System Defects

A review of literature data on the study of human embryos using new methods of medical imaging is given. The possibility of prenatal diagnosis of severe central nervous system defects has been demonstrated already in the embryonic period at 8–10 weeks of gestation or at the age of 16 to 23 stages of the embryonic development period

scholarly journals Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders

2017 ◽  
Vol 2017 ◽  
pp. 1-25 ◽  
Author(s):  
Viviana I. Torres ◽  
Daniela Vallejo ◽  
Nibaldo C. Inestrosa
Keyword(s):  
Central Nervous System ◽  
Neurological Disorders ◽  
Neuronal Development ◽  
Protein Complexes ◽  
Synaptic Proteins ◽  
Excitatory Synapses ◽  
Complex Structures ◽  
Disease Phenotype ◽  
The Central Nervous System ◽  
Invertebrate Models

Synapses are complex structures that allow communication between neurons in the central nervous system. Studies conducted in vertebrate and invertebrate models have contributed to the knowledge of the function of synaptic proteins. The functional synapse requires numerous protein complexes with specialized functions that are regulated in space and time to allow synaptic plasticity. However, their interplay during neuronal development, learning, and memory is poorly understood. Accumulating evidence links synapse proteins to neurodevelopmental, neuropsychiatric, and neurodegenerative diseases. In this review, we describe the way in which several proteins that participate in cell adhesion, scaffolding, exocytosis, and neurotransmitter reception from presynaptic and postsynaptic compartments, mainly from excitatory synapses, have been associated with several synaptopathies, and we relate their functions to the disease phenotype.

scholarly journals MONOZYGOTIC TWINS DISCORDANT FOR THE OCULO-AURICULO-VERTEBRAL (GOLDENHAR SYNDROME)

2012 ◽  
Author(s):  
Thayse Goetze ◽  
Rafael Rosa ◽  
Paulo Zen ◽  
André Cunha ◽  
Júlia Guaitolini ◽  
...  
Keyword(s):  
Monozygotic Twins ◽  
Goldenhar Syndrome

Magnetic resonance relaxometry in monozygotic twins discordant and concordant for schizophrenia

2005 ◽  
Vol 20 (1) ◽  
pp. 41-44 ◽  
Author(s):  
Filip Spaniel ◽  
Vit Herynek ◽  
Tomas Hajek ◽  
Monika Dezortova ◽  
Jiri Horacek ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Globus Pallidus ◽  
Relaxation Times ◽  
Monozygotic Twins ◽  
T2 Relaxation ◽  
T1 Relaxation ◽  
Significant Prolongation ◽  
Healthy Control ◽  
Genetic Loading ◽  
Mz Twins

AbstractT1 and T2 relaxation times were examined in four pairs of monozygotic (MZ) twins discordant and concordant for schizophrenia with low and high genetic loading for the illness and five healthy control MZ twin pairs. Patients with schizophrenia (n = 11) showed significant prolongation in T1 relaxation times in the globus pallidus (GP) bilaterally (P < 0.005, Bonferroni corrected) when compared to 14 healthy MZ twins.

Atypical Presentation of Goldenhar Syndrome

2021 ◽  
Vol 29 (1) ◽  
pp. 98-101
Author(s):  
Shubhrakanti Sen ◽  
Debmalya Maity ◽  
Arnab Koley
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chromosomal Analysis ◽  
Goldenhar Syndrome ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are   sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

Inflammatory Bowel Disease and Risk of Birth Defects in Offspring

2020 ◽  
Vol 14 (5) ◽  
pp. 588-594
Author(s):  
Nathalie Auger ◽  
Justin Côté-Daigneault ◽  
Marianne Bilodeau-Bertrand ◽  
Laura Arbour
Keyword(s):  
Ulcerative Colitis ◽  
Inflammatory Bowel Disease ◽  
Central Nervous System ◽  
Nervous System ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Birth Defects ◽  
Bowel Disease ◽  
Inflammatory Bowel ◽  
Central Nervous System Defects

Abstract Background and Aims The relationship between inflammatory bowel disease in pregnancy and birth defects is not understood. We evaluated whether Crohn’s disease and ulcerative colitis in pregnant women were associated with the risk of birth defects in the offspring. Methods We undertook a retrospective cohort study of 2 184 888 pregnancies in Quebec, Canada, between 1989 and 2016. We calculated risk ratios [RR] and 95% confidence intervals [CI] for the association between inflammatory bowel disease and the risk of birth defects, using generalised estimating equations adjusted for maternal characteristics. We assessed associations in the period before 2000, when immunosuppressive biologic therapy and folic acid food fortification were not yet available, compared with the period after 2000 when these interventions were more widespread. Results This study included 13 099 women with Crohn’s disease and 7798 with ulcerative colitis. Crohn’s disease was associated with 1.90 times [95% CI 1.10–3.28] the risk of abdominal wall defects [gastroschisis, omphalocoele, and diaphragmatic hernia] and ulcerative colitis was associated with 1.53 times [95% CI 1.02–2.30] the risk of central nervous system defects. The association of Crohn’s disease with abdominal wall defects was stronger before 2000 [RR 3.62, 95% CI 1.71–7.67] than after 2000 [RR 1.23, 95% CI 0.55–2.75]. Ulcerative colitis was associated with central nervous system defects regardless of time period. Conclusions These findings suggest that inflammatory bowel disease is associated with the risk of abdominal wall and central nervous system defects, and that introduction of immunobiologic medications is unlikely to be associated with added risk. Podcast This article has an associated podcast which can be accessed at https://academic.oup.com/ecco-jcc/pages/podcast

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