Dysostoses

03/01/2013 - "While enzyme replacement therapy (ERT) with idursulfase has been shown to improve many somatic features of the disease, some such as dysostosis multiplex and cardiac valve disease appear irreversible once established, and little is known about the preventative effects of ERT in pre-symptomatic patients. "

01/01/1999 - "To obtain a better understanding of mandibulo-facial dysostosis and hemicraniofacial microsomia in man, the authors carried out a histologic and scanning electron microscope study of the facial malformations produced in mouse embryos by retinoic acid and methyl-triazene. "
01/01/1999 - "Finally, although the facial anomalies produced by retinoic acid resemble the human mandibulo-facial dysostosis syndrome, no correlation was found between hemicraniofacial microsomia and the administration of methyl-triazene."
10/01/2000 - "A wide spectrum of congenital abnormalities, including exophthalmos, microphthalmia and anophthalmia, maxillo-mandibular dysostosis, micrognathia of both maxilla and mandible, cleft palate, subdevelopment of ear lobe, preauricular tags and macroglossia, were observed in the offspring of retinoic acid treated animals. "

07/01/1965 - "[Calcium metabolism study in a case of dysostosis cleidocranialis]."
05/01/1997 - "Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes."

01/01/2015 - "Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). "
06/01/2013 - "Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal dysostosis, spondylothoracic dysostosis and recessive brachydactyly, diseases characterized by skeletal patterning defects. "
03/01/2013 - "Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis."
01/01/2013 - "The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. "
01/01/2013 - "Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. "

12/01/2013 - "Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. "
01/01/2013 - "Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. "
09/01/2012 - "Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial dysostosis, and nasal hypoplasia. "
04/06/2012 - "Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. "
06/01/2007 - "Acrodysostosis is an extremely rare disorder characterized by short stature and peripheral dysostosis. "

09/01/2015 - "Nager syndrome belongs to a heterogeneous group of disorders involving abnormal development of the extremities, face, and jaw: acrofacial dysostosis (AFD). "
09/01/2014 - "Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. "
08/01/2014 - "Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. "
09/01/2013 - "Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial dysostosis. "
09/01/2013 - "Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome."

03/01/2008 - "Shwachman-Diamond syndrome is an inherited multisystem disorder characterized by bone marrow and pancreatic dysfunction as well as metaphyseal dysostosis. "
12/01/2005 - "Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. "
08/01/2002 - "Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, metaphyseal dysostosis and bone marrow dysfunction with a predilection towards severe hematologic complications. "
12/01/1999 - "Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone marrow dysfunction. "
10/01/1983 - "We report the case of a 1-year-old girl with the typical symptoms of Shwachman syndrome: neutropenia, insufficiency of the exocrine pancreas, and metaphyseal dysostosis. "

01/01/2014 - "We report a new case of postaxial acrofacial dysostosis (Miller) syndrome with expanded profile. "
12/01/2012 - "Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. "
09/15/2012 - "Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH."
10/16/1996 - "There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg."
10/01/1991 - "A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. "

03/01/2013 - "MPS VI is characterized by dysostosis multiplex, corneal clouding, heart valve defects and urinary excretion of glycosaminoglycans (GAGs). "
10/01/2006 - "A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. "
11/01/1992 - "The general phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, joint stiffness, hernias, dysostosis multiplex, mucopolysaccharides excretion in the urine and metachromatic staining in peripheral leukocytes and bone marrow. "
01/01/2010 - "A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. "
01/01/2010 - "Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. "

01/01/2009 - "Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. "
04/01/2008 - "We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. "
01/01/1999 - "The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). "
04/01/2008 - "Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis."
11/26/1999 - "Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. "

03/01/2013 - "While enzyme replacement therapy (ERT) with idursulfase has been shown to improve many somatic features of the disease, some such as dysostosis multiplex and cardiac valve disease appear irreversible once established, and little is known about the preventative effects of ERT in pre-symptomatic patients. "

01/01/1981 - "[Prosthodontic studies of dysostosis cleido-cranialis]."

07/01/2009 - "Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis."
09/01/1988 - "Le Fort II osteotomy in the treatment of maxillonasal dysostosis (Binder's syndrome)."
01/01/1977 - "[Naso-orbito-maxillary osteotomy for correction of maxillonasal dysostosis]."
04/15/2008 - "The Le Fort III osteotomy and midfacial distraction osteogenesis can efficiently relieve the symptoms of upper-airway stenosis in severe midfacial dysostosis."
04/15/2008 - "Eleven cases (age, 5-16 yrs) with severe midface dysostosis complicated with exophthalmos, anterior crossbite and upper airway stenosis were treated by using Le Fort III osteotomy and midfacial DO from August 2000 to February 2007. "

09/01/1988 - "Skull bone grafts in the treatment of maxillonasal dysostosis (Binder's syndrome)."
11/01/1998 - "Five patients, one with mandibular dysostosis, one with otomandibular dysostosis, two with Goldenhar syndrome, and one with a surgically revised fibroma of the right mandible that was reconstructed by a costochondral graft, were treated by means of an activator functional appliance. "

01/01/2013 - "Despite the successful effect of haematopoietic stem cell transplantation on the other features, dysostosis remains a disabling symptom of the disease. "