Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias

Autor: Jp. Misson, Jacques Lombet, Yves Sznajer, M Demarche, M. Raoul, Rigo, David Geneviève, L Collignon, Romain Vanwijck, Alain Verloes, F Vanwijck
Rok vydání: 2004
Předmět:
Zdroj: Clinical Dysmorphology. 13:205-211
ISSN: 0962-8827
DOI: 10.1097/00019605-200410000-00002
Popis: 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.
Databáze: OpenAIRE