Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Craniofacial dysplasia of a syndromic pattern can usually be classified into one of two easily identifiable groups. In the first group are those malformations of the craniofacial skeleton and soft tissues that are asymmetrical in form and in the other, those that are principally symmetrical. Clinical studies have demonstrated that affected subjects in the symmetrical group frequently improve in terms of facial appearance as growth and development proceed to maturity, while those with asymmetrical defects often deteriorate in this respect. Embryological studies on animal models of these malformations have shown that asymmetrical lateral facial dysplasia and symmetrical mandibulofacial dysplasia exhibit discrete and widely disparate causal mechanisms of malformation. Analysis of these mechanisms and their effects on subsequent growth and development has suggested significant variations in the timing and technique of reconstructive procedures which will enable the surgeon to produce the most effective results when used for the rehabilitation of the afflicted.
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PMID:The embryological basis of craniofacial dysplasias. 91 64

Four cases otocraniumfacial syndromes with asymmetrical affectation of the face are presented. Clinic, radiologic and genetic studies are made. Authors comment the difference between Goldenhar's syndrome and hemifacial microsomia. Finally the etiopathogenic thesis, differential diagnostics and treatment are commented.
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PMID:[Oto-cranio-facial syndromes with asymmetrical involvement of the face]. 666 Jun 48

Otomandibular dysplasia are characterised by a combination of anomalies of the ear and the mandible. From the surgical point of vue, facial dysostosis is prominent and focus the attention. For the geneticist it is a group of different entities, familial or sporadic. Familial history, detailed clinical examination looking for extra-facial associated malformations, characteristics of the facial dysostosis, unilaterality or bilaterality and biological or radiological findings allow sometimes to identify a known syndrome. A bilateral and symetric dysostosis with predominant zygomatic and malar hypoplasia suggest the diagnosis of Treacher-Collins or Franceschetti syndrome or mandibulofacial dysostosis, particularly in the presence of positive familial history. Acral anomalies associated with facial dysostosis allow the distinction between Treacher-Collins syndrome and acrofacial dysostosis (Nager and Miller syndromes). Unilateral and bilateral asymmetrical anomalies, namely facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, no. 7 cleft, first branchial arch syndrome, Goldenhar syndrome were lumping together by Gorlin in 1990, who proposed to use the term "oculoauriculovertebral spectrum". This classification is the first step before genetic studies, who need homogeneous group of patients. Lastly recurrence risk can be evaluated and genetic counselling can be done only if a precise genetic diagnosis is known.
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PMID:[Oto-mandibular dysplasias: genetics and nomenclature of syndromes]. 1177 Apr 50