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Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia.
Genet Couns 1994; 5(3):257-67GC

Abstract

A patient with an unusual combination of findings, which do not fit in any of the known syndromes, is presented. The patient, a 24.5-year-old male of normal growth and intelligence, manifests craniofacial dysmorphism, radiolucencies in the skull and in the cervical vertebrae, progressive alveolar bone loss and fusion of cervical vertebrae. The young man does not exhibit any other systemic, hematological, biochemical, chromosomal or immunological abnormality, except for IgA deficiency.

Authors+Show Affiliations

Department of Oral Pathology and Surgery, Faculty of Dentistry, University of Athens, Greece.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7811426

Citation

Bazopoulou-Kyrkanidou, E, et al. "Hyperbrachycephaly, Short Face, Midface Hypoplasia, Fusion of Cervical Vertebrae, Radiolucent Bone Defects, and Severe Destruction of Periodontium--a New Syndrome: Craniofaciocervical Osteoglyphic Dysplasia." Genetic Counseling (Geneva, Switzerland), vol. 5, no. 3, 1994, pp. 257-67.
Bazopoulou-Kyrkanidou E, Vrotsos I, Kyrkanides S, et al. Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia. Genet Couns. 1994;5(3):257-67.
Bazopoulou-Kyrkanidou, E., Vrotsos, I., Kyrkanides, S., Tsichlakis, K., Tosios, K., Mandalenaki-Lambrou, K., ... Grigoriadou, M. (1994). Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia. Genetic Counseling (Geneva, Switzerland), 5(3), pp. 257-67.
Bazopoulou-Kyrkanidou E, et al. Hyperbrachycephaly, Short Face, Midface Hypoplasia, Fusion of Cervical Vertebrae, Radiolucent Bone Defects, and Severe Destruction of Periodontium--a New Syndrome: Craniofaciocervical Osteoglyphic Dysplasia. Genet Couns. 1994;5(3):257-67. PubMed PMID: 7811426.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyperbrachycephaly, short face, midface hypoplasia, fusion of cervical vertebrae, radiolucent bone defects, and severe destruction of periodontium--a new syndrome: craniofaciocervical osteoglyphic dysplasia. A1 - Bazopoulou-Kyrkanidou,E, AU - Vrotsos,I, AU - Kyrkanides,S, AU - Tsichlakis,K, AU - Tosios,K, AU - Mandalenaki-Lambrou,K, AU - Kondyli,A, AU - Nassi,H, AU - Sarri,C, AU - Grigoriadou,M, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 257 EP - 67 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 5 IS - 3 N2 - A patient with an unusual combination of findings, which do not fit in any of the known syndromes, is presented. The patient, a 24.5-year-old male of normal growth and intelligence, manifests craniofacial dysmorphism, radiolucencies in the skull and in the cervical vertebrae, progressive alveolar bone loss and fusion of cervical vertebrae. The young man does not exhibit any other systemic, hematological, biochemical, chromosomal or immunological abnormality, except for IgA deficiency. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/7811426/Hyperbrachycephaly,_short_face,_midface_hypoplasia,_fusion_of_cervical_vertebrae,_radiolucent_bone_defects,_and_severe_destruction_of_periodontium--a_new_syndrome:_craniofaciocervical_osteoglyphic_dysplasia L2 - http://www.diseaseinfosearch.org/result/6576 DB - PRIME DP - Unbound Medicine ER -