Prenatal 3D sonography of an isolated lateral facial cleft

2017 ◽  
Vol 46 (4) ◽  
pp. 292-295
Author(s):  
Mina Lee ◽  
Young-Bok Ko ◽  
Jung-Bo Yang ◽  
Byung-Hun Kang
Keyword(s):  
Facial Cleft ◽  
3D Sonography

STATIC AND REAL-TIME 3D SONOGRAPHY OF THE TEMPOROMANDIBULAR JOINT

2005 ◽  
Vol 26 (S 1) ◽  
Author(s):  
CA Landes ◽  
O Seitz ◽  
W Goral ◽  
R Sader ◽  
M Mack
Keyword(s):  
Temporomandibular Joint ◽  
Real Time ◽  
3D Sonography

MEDIAN FACIAL CLEFT DYSMORPHISM IN THREE SIBLINGS: CASE REPORT AND REVIEW OF THE LITERATURE

2009 ◽  
pp. 091202121239062
Author(s):  
Mort Rizvi ◽  
Michael Lypka ◽  
Ted Kovacev ◽  
Joseph Agris
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Facial Cleft

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

A case of bilateral temporal muscle myositis accompanied by rare facial cleft

1999 ◽  
Vol 22 (2-3) ◽  
pp. 132-134
Author(s):  
K. Ueda ◽  
S. Tajima ◽  
M. Shirakabe ◽  
S. Ohba ◽  
Y. Ohmiya ◽  
...  
Keyword(s):  
Temporal Muscle ◽  
Facial Cleft

scholarly journals Long-Term Follow-up of a Tessier Number 5 Facial Cleft

2011 ◽  
Vol 4 (01) ◽  
pp. 035-042 ◽  
Author(s):  
Ahmed Afifi ◽  
Risal Djohan ◽  
Walter Sweeney ◽  
Susan Brooks ◽  
Jarred Connolly ◽  
...  
Keyword(s):  
Facial Cleft ◽  
Long Term Follow Up

scholarly journals OP03.08: Measurement of the volume of the fetal corpus callosum using 3D sonography

2006 ◽  
Vol 28 (4) ◽  
pp. 434-435
Author(s):  
E. Vaisbuch ◽  
Y. Zalel ◽  
R. Achiron
Keyword(s):  
Corpus Callosum ◽  
3D Sonography

scholarly journals Assessing Nonacceptance of the Facial Appearance in Adult Patients After Complete Treatment of Their Rare Facial Cleft

2012 ◽  
Vol 36 (4) ◽  
pp. 938-945 ◽  
Author(s):  
Marijke E. P. van den Elzen ◽  
Sarah L. Versnel ◽  
Hugo J. Duivenvoorden ◽  
Irene M. J. Mathijssen
Keyword(s):  
Adult Patients ◽  
Facial Appearance ◽  
Facial Cleft ◽  
Complete Treatment

scholarly journals Median facial cleft in amniotic band syndrome

2011 ◽  
Vol 18 (2) ◽  
pp. 192 ◽  
Author(s):  
Debabrata Das ◽  
Gobinda Das ◽  
Sibnath Gayen ◽  
Arpita Konar
Keyword(s):  
Amniotic Band ◽  
Facial Cleft ◽  
Amniotic Band Syndrome

Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

2002 ◽  
Vol 39 (4) ◽  
pp. 469-473 ◽  
Author(s):  
Jeffrey A. Ascherman ◽  
Sean L. Knowles ◽  
Kenneth C. Troutman
Keyword(s):  
Musculoskeletal System ◽  
Multidisciplinary Approach ◽  
Multidisciplinary Treatment ◽  
Severe Form ◽  
Female Infant ◽  
Craniofacial Abnormalities ◽  
Multisystem Disorder ◽  
Facial Region ◽  
Facial Cleft ◽  
Goltz Syndrome

Objective Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

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