Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
Verloes, Alain; Raoul, M.; Genevieve, D.et al.
2004 • In Clinical Dysmorphology, 13 (4), p. 205-211
[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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine
Raoul, M.
Genevieve, D.
Sznajer, Y.
Demarche, M.
Lombet, Jacques ; Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Rigo, Vincent ; Centre Hospitalier Universitaire de Liège - CHU > Néonatologie
Misson, Jean-Paul ; Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Collignon, L.
Vanwijck, France ; Centre Hospitalier Universitaire de Liège - CHU > O.R.L.
Vanwijck, R.
Language :
English
Title :
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
Publication date :
October 2004
Journal title :
Clinical Dysmorphology
ISSN :
0962-8827
eISSN :
1473-5717
Publisher :
Lippincott Williams & Wilkins, Philadelphia, United States - Pennsylvania
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