Disease relevance of Mandibulofacial Dysostosis

• We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism [1].

High impact information on Mandibulofacial Dysostosis

• Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders [2].
• Treacher Collins syndrome (TCS) is a craniofacial disorder that results from mutations in TCOF1, which encodes the nucleolar protein Treacle [3].
• Mutations in the Treacher Collins syndrome gene, TCOF1, cause a disorder of craniofacial development [4].
• Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia [5].
• The hypothesis was tested using data from 25 patients with mandibulofacial dysostosis (MFD) and 40 patients with hemifacial microsomia (HFM) [6].

Chemical compound and disease context of Mandibulofacial Dysostosis

• Acute exposure to 400 mg/kg 13-cis retinoic acid (13-cis RA, isotretinoin, Accutane) on the ninth day postfertilization in mice (a time that corresponds to the fourth week postfertilization in humans) results in malformations that characterize mandibulofacial dysostosis (MFD, Treacher Collins syndrome) [7].
• The aim of the clinical investigation was to compare mandibulofacial dysostosis (MFD) with hemifacial microsomia (HFM) and thalidomide-induced malformations restricted to the first and second branchial arches [8].

Biological context of Mandibulofacial Dysostosis

• Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostoses, to the 5q31.3-->q33.3 region of chromosome 5 has been established [9].

Anatomical context of Mandibulofacial Dysostosis

• These investigations have allowed clinical separation of first and second branchial arch anomalies into syndromes of hemifacial microsomia and mandibulofacial dysostosis [10].
• A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis [10].

Gene context of Mandibulofacial Dysostosis

• Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region [11].
• Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo [12].

Analytical, diagnostic and therapeutic context of Mandibulofacial Dysostosis

• Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome) [13].

References