TY - JOUR
T1 - HYPERBRACHYCEPHALIE, HYPOPLASIE MIDFACIALE, FUSION DES VERTEBRES CERVICAUX, ZONES RADIOLUCENTES OSSEUSES, ET DESTRUCTION PERIODONTALE SEVERE - UN NOUVEAU SYNDROME
T2 - LA DYSPLASIE CRANIOFACIOCERVICALE OSTEOGLYPHIQUE
AU - 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.
AU - Michelakakis, H.
PY - 1994
Y1 - 1994
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.
AB - 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.
KW - Alveolar bone loss
KW - Craniofacial dysmorphism
KW - Fusion of cervical vertebrae
KW - Skull and vertebral radiolucencies
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M3 - Article
C2 - 7811426
AN - SCOPUS:0027994339
SN - 1015-8146
VL - 5
SP - 257
EP - 267
JO - Genetic Counseling
JF - Genetic Counseling
IS - 3
ER -