Reference : Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retard...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/13614
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
English
Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
Raoul, M. [> > > >]
Genevieve, D. [> > > >]
Sznajer, Y. [> > > >]
Demarche, M. [> > > >]
Lombet, Jacques [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
Rigo, Vincent mailto [Centre Hospitalier Universitaire de Liège - CHU > > Néonatologie >]
Misson, Jean-Paul mailto [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
Collignon, L. [> > > >]
Vanwijck, France [Centre Hospitalier Universitaire de Liège - CHU > > O.R.L. >]
Vanwijck, R. [> > > >]
Oct-2004
Clinical Dysmorphology
Lippincott Williams & Wilkins
13
4
205-211
Yes (verified by ORBi)
International
0962-8827
Philadelphia
[en] syngnathia ; coloboma ; vertebral segmentation defects ; hemifacial microsomia ; oromandibular ; limb hypoplasia spectrum
[en] Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-aclactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder. (C) 2004 Lippincott Williams Wilkins.
Researchers ; Professionals
http://hdl.handle.net/2268/13614

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