Acromelia‐oligodontia syndrome
نویسندگان
چکیده
This case report describes a patient with ankyloglossia, oligodontia, unilateral hypoplasia of the zygoma and mandible, along with bilateral distal reduction anomalies of his limbs without long bone abnormalities. This may represent a mild variant of oromandibular limb hypogenesis syndrome, expanding the phenotypic spectrum, or a previously unrecognized malformation syndrome.
منابع مشابه
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia
Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations have been association with oligodontia. In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non...
متن کاملPyramidal Molar Roots in Primary and Permanent Dentition along with Non Syndromic Oligodontia in a 11 Year Old Boy
Primary and permanent molars are usually multi rooted. At times we can encounter cases with a single root, called pyramidal root. Oligodontia is defined as the developmental absence of six teeth or more, excluding third molars. It can be isolated (Oligodontia-I) or as a part of a syndrome (Oligodontia-S) such as in ectodermal dysplasia. The present report describes a case of single-rooted prima...
متن کاملNon Syndromic Oligodontia: Case Report
Oligodontia is a rare genetic disorder which represents the congenital absence of more than six teeth in primary, permanent or both dentitions. It is usually a part of a syndrome and seldom occurs as an isolated entity. Genes responsible for non syndromic oligodontia are found to be MSX1 and PAX9 genes. In this case report a 13 year old boy is presented who had absence of all four second perman...
متن کاملNonsyndromic Oligodontia with Ankyloglossia: a Rare Case Report
Agenesis of teeth is one of the most common human developmental anomalies. Oligodontia is a condition in which there is absence of six or more teeth, which itself is a rare condition. Oligodontia is associated with many syndromes. There is no much literature on oligodontia with ankylogossia. This is case report of a 9 year old girl child, who had missing permanent mandibular anterior teeth and ...
متن کامل[Oligodontia in 2 siblings with ectodermal dysplasia].
Oligodontia, a form of hypodontia, is commonly seen in permanent than in deciduous dentition. It is defined as the congenital absence of six or more teeth, excluding third molars. It is relatively a rare condition which occurs as an isolated finding or as part of a syndrome. The present paper shows a rare case of oligodontia with ectodermal dysplasia in 2 siblings (boys). Both the cases were as...
متن کامل