A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth.

A Thai girl with skeletal dysplasia and dental anomalies was seen. Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced nipples, and protruded abdomen. Radiographic testing indicated that she had a large sella turcica, platyspondyly, hypoplastic acetabulum, and a small body of mandible. Both her deciduous and permanent teeth were equally opalescent, and most were rootless, with root development of the mandibular teeth more severely affected. Some maxillary roots were extremely short and tapered. Hypodontia was also observed. These findings represent a unique and hitherto undescribed syndrome of skeletal dysplasia with concomitant dental anomalies.

[1]  D. Sillence,et al.  A new syndrome? , 2005, Pediatric Radiology.

[2]  M. A. Fonseca.  Dental findings in the Schimke immuno-osseous dysplasia , 2000 .

[3]  E. Faria,et al.  Schimke immuno-osseous dysplasia: case report and review of 25 patients , 1999, Journal of medical genetics.

[4]  T. Hart,et al.  Tricho‐dento‐osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions , 1999, Clinical genetics.

[5]  J. Marini,et al.  Evaluation of oral problems in an osteogenesis imperfecta population. , 1999, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

[6]  P. Kantaputra,et al.  Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. , 1998, American journal of medical genetics.

[7]  N. Prabhu,et al.  Rieger's syndrome: a case report. , 1997, Quintessence international.

[8]  L. Matsson,et al.  Hypophosphatasia affecting the permanent dentition. , 1996, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

[9]  L. Shaw.  Short root anomaly in a patient with severe short-limbed dwarfism. , 1995, International journal of paediatric dentistry.

[10]  P. Lukinmaa,et al.  Heritable dentin defects: nosology, pathology, and treatment. , 1993, American journal of medical genetics.

[11]  J. Bonaventure,et al.  Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. , 1992, American journal of medical genetics.

[12]  E. Bazopoulou-Kyrkanidou,et al.  Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality. , 1992, Oral surgery, oral medicine, and oral pathology.

[13]  P. Sprague,et al.  Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. , 1991, American journal of medical genetics.

[14]  F. Pope,et al.  A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect , 1989, British Dental Journal.

[15]  R. Pyeritz,et al.  Osteogenesis imperfecta type I with unusual dental abnormalities. , 1988, American journal of medical genetics.

[16]  J. Nelson,et al.  Clinical findings in 12 patients with MPS IV A (Morquio's disease) , 1988, Clinical genetics.

[17]  J. Nelson,et al.  Clinical findings in 12 patients with MPS IV A (Morquio's disease) , 1988, Clinical genetics.

[18]  P. Lukinmaa.  Immunofluorescent localization of type III collagen and the N-terminal propeptide of type III procollagen in dentin matrix in osteogenesis imperfecta. , 1988, Journal of craniofacial genetics and developmental biology.

[19]  C. Puckett,et al.  Genetic analysis in families with van der Woude syndrome. , 1985, Journal of craniofacial genetics and developmental biology.

[20]  M. T. Jaspers,et al.  Teeth with short, thin, dilacerated roots in patients with short stature: a dominantly inherited trait. , 1982, Oral surgery, oral medicine, and oral pathology.

[21]  R. Jorgenson.  The conditions manifesting taurodontism. , 1982, American journal of medical genetics.

[22]  D. Cavalcanti,et al.  Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. , 1980, Journal of medical genetics.

[23]  C. Witkop,et al.  Clinical, genetic, and histologic features of the trichoonychodental (TOD) syndrome. , 1978, Oral surgery, oral medicine, and oral pathology.

[24]  S. Girgis,et al.  Taurodontism, short roots, and external resorption, associated with short stature and a small head. , 1977, Oral surgery, oral medicine, and oral pathology.

[25]  M. E. Morris,et al.  Dentine dysplasia with sclerotic bone and skeletal anomalies inherited as an autosomal dominant trait. A new syndrome. , 1977, Oral surgery, oral medicine, and oral pathology.

[26]  W. Bottomley,et al.  Dental anomalies in the Rothmund-Thomson syndrome. Report of a case. , 1976, Oral surgery, oral medicine, and oral pathology.

[27]  R. Cook,et al.  Otodental dysplasia: a “new” ectodermal dysplasia , 1975, Clinical genetics.

[28]  Witkop Cj.  Hereditary defects of dentin. , 1975 .

[29]  N. Me.  Two brothers with nonkeratan-sulfate-excreting Morquio syndrome. , 1974 .

[30]  J. Sauk,et al.  Taurodontism, diminished root formation, and microcephalic dwarfism. , 1973, Oral surgery, oral medicine, and oral pathology.

[31]  A. Frappier,et al.  B.C.G. vaccination and leukemia mortality. , 1970, Lancet.

[32]  A. Bearn,et al.  Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses. , 1967, Lancet.