Literature DB >> 8041477

Recurrence of Treacher Collins' syndrome with sonographic findings.

D A Milligan1, F E Harlass, P Duff, J N Kopelman.   

Abstract

Treacher Collins' syndrome, or mandibulofacial dysostosis, is a rare, autosomal-dominant disorder. We describe the recurrence of this anomaly in the fetus of a patient who previously had delivered a severely affected infant. The ultrasonographic findings of hydramnios, absence of fetal swallowing movements, and poor growth of the biparietal diameter and head circumference permitted us to suggest the diagnosis antenatally of another affected child.

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Year:  1994        PMID: 8041477

Source DB:  PubMed          Journal:  Mil Med        ISSN: 0026-4075            Impact factor:   1.437


  9 in total

Review 1.  Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

Authors:  Paul A Trainor
Journal:  Am J Med Genet A       Date:  2010-08-23       Impact factor: 2.802

2.  Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI.

Authors:  Eldad Katorza; Catherine Nahama-Allouche; Vanina Castaigne; Marie Gonzales; Eva Galliani; Sandrine Marlin; Jean-Marie Jouannic; Jonathan Rosenblatt; Hubert Ducou le Pointe; Catherine Garel
Journal:  Pediatr Radiol       Date:  2010-12-08

Review 3.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

4.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 5.  Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.

Authors:  Daisuke Sakai; Paul A Trainor
Journal:  Dev Growth Differ       Date:  2016-08-02       Impact factor: 2.053

Review 6.  Treacher Collins syndrome.

Authors:  M J Dixon
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

Review 7.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

8.  Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

Authors:  S J Edwards; A Fowlie; M P Cust; D T Liu; I D Young; M J Dixon
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

9.  Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.

Authors:  Daisuke Sakai; Jill Dixon; Michael J Dixon; Paul A Trainor
Journal:  PLoS Genet       Date:  2012-03-29       Impact factor: 5.917

  9 in total

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