Mandibulofacial dysostosis, a familial study of five generations

Rovin, Sheldon; Dachi, Stephen F.; Borenstein, Daniel; Cotter, William B.

doi:10.1016/s0022-3476(64)80522-9

Cited by 89 publications

(37 citation statements)

References 7 publications

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“…This is in accordance with the statistical results derived from the literature by Rovin, Dachi, Borenstein, and Cotter (1964).…”

Section: Results Of Investigationsupporting

confidence: 93%

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Mandibulo-facial dysostosis. A familial study.

Farrar¹

1967

British Journal of Ophthalmology

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“…This is in accordance with the statistical results derived from the literature by Rovin, Dachi, Borenstein, and Cotter (1964).…”

Section: Results Of Investigationsupporting

confidence: 93%

“…There was no hearing defect. Discussion Mandibulo-facial dysostosis is a familial congenital syndrome of malformations affecting the region derived from the first and second branchial arches, and the first branchial cleft and pouch (Waardenburg and Navis, 1949).…”

Section: Results Of Investigationmentioning

confidence: 99%

Mandibulo-facial dysostosis. A familial study.

Farrar¹

1967

British Journal of Ophthalmology

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“…4 TCS is diagnosed in 1/50 000 live births. 5,6 More than 60% of patients have no positive family history. 7 TCS is characterized by bilateral downward slanting palpebral fissures, frequently accompanied by colobomas of the lower eyelid and a paucity of eyelashes medial to the defect, abnormalities of the external ears, atresia of external auditory canal and bilateral conductive hearing loss, hypoplasia of the zygomatic complex and mandible, and cleft palate.…”

Section: Introductionmentioning

confidence: 99%

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

et al. 2004

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To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3 0 part of the open reading frame. Inter-and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.

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“…TCS has been considered an autosomal dominant condition for decades, 6 its common sporadic occurrence being explained by a high rate of de novo TCOF1 mutations. 7,8 However, recent identification of disease-causing mutations in POLR1C and POLR1D with autosomal recessive and autosomal dominant modes of inheritance pointed to heterogeneity in both the locus and the mode of inheritance.…”

Section: Discussionmentioning

confidence: 99%