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[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome]. [PDF]
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2022 Objective:To explore the clinical diagnosis, otological treatment and molecular etiology in a rare syndromic hearing loss case characterized by mandibulofacial dysostosis with microcephaly（MFDM）. Methods: The proband underwent detailed history collection, systematic physical examination and phenotypic analysis, as well as audiological examination ...
Xiaoyu, Li +3 more
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European Journal of Medical Genetics, 2022
Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and micrognathia.
Byung Yoon Choi +2 more
exaly +3 more sources
Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and micrognathia.
Byung Yoon Choi +2 more
exaly +3 more sources
Clinical Dysmorphology, 2006
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate.
Zechi-Ceide Rm +1 more
exaly +3 more sources
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate.
Zechi-Ceide Rm +1 more
exaly +3 more sources
Clinical Dysmorphology, 2001
We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager ...
W Delb
exaly +3 more sources
We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager ...
W Delb
exaly +3 more sources
American Journal of Medical Genetics, Part A, 2009
AbstractTreacher Collins syndrome (TCS, OMIM 154500) is a well‐defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness.
Dietmar R Lohmann, Dagmar Wieczorek
exaly +3 more sources
AbstractTreacher Collins syndrome (TCS, OMIM 154500) is a well‐defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness.
Dietmar R Lohmann, Dagmar Wieczorek
exaly +3 more sources
European Gynecology & Obstetrics, 2021
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare gene deletion syndrome caused by a heterozygous pathogenic variant or deletion in the EFTUD2 gene. Typical features described in affected patients include developmental delay, microcephaly, micrognathia, malar hypoplasia, esophageal atresia and congenital heart disease, among others.
Feliu, Silvia +6 more
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Mandibulofacial dysostosis with microcephaly (MFDM) is a rare gene deletion syndrome caused by a heterozygous pathogenic variant or deletion in the EFTUD2 gene. Typical features described in affected patients include developmental delay, microcephaly, micrognathia, malar hypoplasia, esophageal atresia and congenital heart disease, among others.
Feliu, Silvia +6 more
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The Cleft Palate Craniofacial Journal
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2 . Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable ...
Katerina L. Aris +3 more
openaire +2 more sources
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2 . Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable ...
Katerina L. Aris +3 more
openaire +2 more sources
Clinical Genetics, 2013
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions ...
S K, Gandomi +4 more
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Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions ...
S K, Gandomi +4 more
openaire +2 more sources
Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant
2014Poster ...
Chung, BHY +7 more
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