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1,601 Possible Causes for Dysostosis

  • Mucopolysaccharidosis

    […] younger brother showed only slight findings of dysostosis multiplex throughout the treatment period.[] In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis[] There were no pronounced signs of dysostosis multiplex on radiographs.[]

  • Mucopolysaccharidosis 2

    Extensive palliative care is required, patients must be regularly evaluated by echocardiogram, respiratory function, full radiologic examination to identify dysostosis multiplex[] Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.[] X-rays - show features of dysostosis multiplex which are due to disordered ossification at varied sites. Audiometry. Brain CT/MRI - characteristic cerebral changes.[]

  • Jarcho-Levin Syndrome

    Moseley from New York City, where the name spondylothoracic dysplasia (dysostosis) was first used.[] Spondylocostal dysostosis is a rare hereditary disorder associated with multiple vertebral and rib anomalies.[] Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects[]

  • Mandibulofacial Dysostosis

    Mandibulofacial dysostosis is a genetic condition.[] Similar cases have been reported under the heading of mandibulofacial dysostosis.[] The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies.[]

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis at Curlie[] Cleidocranial dysostosis comes from the words cleido (collar bone), cranial (head) and dysostosis (abnormal bone forming); it is also known as cleidocranial dysplasia.[] Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area.[]

  • Crouzon Syndrome

    A case of combined local surgical and prosthetic treatment in a patient with craniofacial dysostosis (Crouzon Syndrome) is described.[] Craniofacial dysarthrosis Craniofacial Dysostosis Craniofacial dysostosis syndrome Craniofacial dysostosis, type 1; CFD1 Crouzon craniofacial dysostosis Crouzon's Disease[] The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzon's and Apert's diseases.[]

  • Gorlin-Chaudhry-Moss Syndrome

    , craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, Cranofacial dysostosis-hypertrichosis-hypoplasia[] Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped[] , Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome[]

  • Autosomal Dominant Spondylocostal Dysostosis

    Spondylocostal dysostosis (Spondylocostal dysostosis) - Genes DLL3, Hes7, LFNG, MESP2, RIPPLY2 and TBX6 The spondylocostal disostosis is a group of diseases characterized[] Acronym SCDO5 Synonyms Costovertebral segmentation anomalies Scoliosis, congenital, with or without rib anomalies Spondylocostal dysplasia Spondylothoracic dysostosis Keywords[] Name Spondylocostal Dysostosis 5 Synonyms COSTOVERTEBRAL SEGMENTATION ANOMALIES , SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES , SPONDYLOCOSTAL DYSPLASIA , SPONDYLOTHORACIC[]

  • Frontonasal Dysplasia

    These clinical findings suggest a new form of acrofacial dysostosis.[] Abstract We report on 3 male and 2 female infants with acromelic frontonasal dysostosis.[] The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis[]

  • Nager Syndrome

    Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial dysostosis.[] We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome.[] Abstract We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation[]

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