Del(18p) syndrome with a single central maxillary incisor.
نویسندگان
چکیده
منابع مشابه
Solitary median maxillary central incisor (SMMCI) syndrome
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th-38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The ...
متن کاملThe primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome.
AIM Solitary Median Maxillary Central Incisor (SMMCI) is a developmental anomaly in the permanent dentition with one single central incisor in the maxilla, positioned exactly in the midline. This condition has been associated with extra- and intraoral malformations in the frontonasal segment of the cranium and face. It is not known whether the centrally located permanent incisor is always pr...
متن کاملSingle maxillary central incisor in a girl with del(18p) syndrome.
We present a girl with del(18p) syndrome and a single maxillary central incisor; she is only the second patient in whom this association has been reported.
متن کاملSingle maxillary central incisor in a girl with del ( l 8 p ) syndrome
We present a girl with del(18p) syndrome and a single maxillary central incisor; she is only the second patient in whom this association has been reported. Del(18p) syndrome results from deletion of all or part of the short arm of chromosome 18 and is probably the second most frequent autosomal deletion syndrome. It is associated with a recognisable clinical phenotype, which includes some degre...
متن کاملDiGeorge syndrome associated with solitary median maxillary central incisor.
DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an iso...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.1.86