title: Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.
abstract: Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment.
authors: Department of Dentofacial Anomalies, Department of Orthodontics, Wroclaw Medical University, Poland.
authors: Anna M
authors: AM
authors: Paradowska-Stolarz
mesh_terms: D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis; D011379:Prognosis; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human