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 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.

Prenatal diagnosis and management of Van der Woude syndrome

2016 ◽  
Vol 5 (1) ◽  
pp. 61-63
Author(s):  
Karla Ferreres García ◽  
Beatriz Berenguer ◽  
Luis Ortiz Quintana ◽  
Elena De Tomás Vicente ◽  
Ricardo Fernández Pérez-Pacheco ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Ultrasound Examination ◽  
Craniofacial Anomalies ◽  
Dominant Inheritance ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Postnatal Diagnosis ◽  
Variable Penetrance

Abstract We report the postnatal diagnosis of Van der Woude syndrome (VWS) in a foetus found to have an isolated right cleft lip and palate by ultrasound examination. After prenatal genetic counselling, the parents declined further evaluation by amniocentesis. At delivery, the infant was also found to have labial pits in the lower lip in addition to the cleft lip and palate identified by ultrasound consistent with VWS. Although VWS is rare, its autosomal dominant inheritance and variable penetrance should prompt additional modalities to more thoroughly evaluate the extent of other organ system and more extensive craniofacial anomalies.

scholarly journals Ear Surgery in Treacher Collins Syndrome

1995 ◽  
Vol 104 (1) ◽  
pp. 31-41 ◽  
Author(s):  
Henri A. M. Marres ◽  
H. M. A. Marres ◽  
W. R. J. Cremers ◽  
Patrick L. M. Huygen
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Conductive Hearing Loss ◽  
Branchial Arch ◽  
Treacher Collins Syndrome ◽  
Ear Surgery ◽  
Arch System ◽  
Conductive Hearing ◽  
Outcome Of Surgery ◽  
Insight Into

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing varies and is sometimes even disappointing. Thorough analysis of 33 cases (39 operated ears) and the strict application of a classification for the anomaly to each ear enabled us to gain insight into the most suitable surgical policy and to form a prognosis for reconstructive ear surgery.

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 ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhixu Liu ◽  
Hao Sun ◽  
Jiewen Dai ◽  
Xiaochen Xue ◽  
Jian Sun ◽  
...  
Keyword(s):  
Calcium Ion ◽  
Autosomal Dominant ◽  
Mrna Level ◽  
Branchial Arch ◽  
Hemifacial Microsomia ◽  
Craniofacial Skeleton ◽  
Conserved Domain ◽  
Whole Exome ◽  
First Time ◽  
Skeleton Formation

Hemifacial microsomia (HM) is a craniofacial congenital defect involving the first and second branchial arch, mainly characterized by ocular, ear, maxilla-zygoma complex, mandible, and facial nerve malformation. HM follows autosomal dominant inheritance. Whole-exome sequencing of a family revealed a missense mutation in a highly conserved domain of ITPR1. ITPR1 is a calcium ion channel. By studying ITPR1’s expression pattern, we found that ITPR1 participated in craniofacial development, especially the organs that corresponded to the phenotype of HM. In zebrafish, itpr1b, which is homologous to human ITPR1, is closely related to craniofacial bone formation. The knocking down of itpr1b in zebrafish could lead to a remarkable decrease in craniofacial skeleton formation. qRT-PCR suggested that knockdown of itpr1b could increase the expression of plcb4 while decreasing the mRNA level of Dlx5/6. Our findings highlighted ITPR1’s role in craniofacial formation for the first time and suggested that ITPR1 mutation contributes to human HM.

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