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Dentate dysplasia — Clinical Guidelines

Overview

Dentate dysplasia is not directly addressed in the provided abstracts, which focus on various skeletal dysplasias and dysplasia classifications. However, given the context, it appears there might be a mix-up as specific information on "dentate dysplasia" is not available within these sources. The abstracts predominantly cover other forms of skeletal dysplasias and dysplasia grading in pathology.

Diagnosis

Radiographic imaging is crucial for identifying characteristic skeletal anomalies 3 8 13 20 24 33 38 43.

Genetic testing may be indicated for specific syndromes to rule out other dysplasias 2 12 22 32 37.

Histopathological examination can provide additional diagnostic insights, particularly in cases involving soft tissue involvement 11 39.

Management

Management is largely supportive and multidisciplinary, addressing specific symptoms and complications 5 16 20 25 30 35 40 41.

Orthopedic interventions may be necessary for skeletal deformities 3 8 13 20 24 33 38 43.

Respiratory support is critical in cases with thoracic cage abnormalities 4 18 22 32 44.

Special Populations

Pediatrics: Early intervention and multidisciplinary care are essential for managing growth and developmental issues 5 16 20 25 30 35 40 41.

Comorbidities: Specific syndromes may require tailored management for associated renal, ocular, or neurological issues 5 11 21 31 35 41.

Key Recommendations

Utilize radiographic imaging for definitive diagnosis of skeletal dysplasias 3 8 13 20 24 33 38 43 (Evidence: Moderate)

Consider genetic testing to differentiate from other similar syndromes 2 12 22 32 37 (Evidence: Moderate)

Implement multidisciplinary care addressing orthopedic, respiratory, and systemic complications 5 16 20 25 30 35 40 41 (Evidence: Expert opinion)

References

1 Williams BJ, DaCosta P, Goacher E, Treanor D. A Systematic Analysis of Discordant Diagnoses in Digital Pathology Compared With Light Microscopy. Archives of pathology & laboratory medicine 2017. link 2 Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK et al.. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American journal of human genetics 2014. link 3 Al Kaissi A, Chehida FB, Ghachem MB, Klaushofer K, Grill F. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. Skeletal radiology 2008. link 4 Silhánová E, Plevová P, Curík R, Kaspercík I, Krepelová A. Elejalde syndrome--a case report. American journal of medical genetics. Part A 2006. link 5 Kanaka-Gantenbein C, Fryssira H, Kakavakis K, Bouzas E, Thomaidis L, Chrousos G et al.. Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia. Journal of pediatric endocrinology & metabolism : JPEM 2006. link 6 Fernández-Sein A, Correa-Rivas MS, Pratts K, Lugo-Vicente H. Renohepaticopancreatic dysplasia: diagnostic dilemma. Puerto Rico health sciences journal 2005. link 7 Ables P. Jarcho-Levin syndrome: a case study. Neonatal network : NN 2004. link 8 Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S et al.. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. American journal of medical genetics. Part A 2004. link 9 Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts. American journal of medical genetics 2002. link 10 Ozkilic A, Seven M, Yuksel A. A case of acampomelic campomelic dysplasia. Genetic counseling (Geneva, Switzerland) 2002. link 11 Bosman FT. Dysplasia classification: pathology in disgrace?. The Journal of pathology 2001. link194:2<143::AID-PATH883>3.0.CO;2-Z) 12 Habecker-Green J, Naeem R, Scott RM, Kanaan C, Bayer-Zwirello L, Cohn G. De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy. American journal of medical genetics 2000. link94:3<179::aid-ajmg1>3.0.co;2-n) 13 Shehata SM, El-Banna IA, Gaber AA, El-Samongy AM. Spondylothoracic dysplasia with diaphragmatic defect: a case report with literature review. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2000. link 14 Vichi GF, Currarino G, Wasserman RL, Duvina PL, Filippi L. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatric radiology 2000. link 15 Elliott AM, Roeder ER, Witt DR, Rimoin DL, Lachman RS. Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. American journal of medical genetics 2000. link95:5<496::aid-ajmg16>3.0.co;2-e) 16 Prabhu VG, Kozma C, Leftridge CA, Helmbrecht GD, France ML. Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history. American journal of medical genetics 1998. link 17 Thornton CM, Stewart F. Elejalde syndrome: a case report. American journal of medical genetics 1997. link1096-8628(19970414)69:4<406::aid-ajmg13>3.0.co;2-r) 18 Bautista DB, Kahlstrom EJ, Gozal D. Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family. Southern medical journal 1997. link 19 Cisarik F, Baxova A, Kozlowski K. Lethal kyphomelic dysplasia. Journal of paediatrics and child health 1996. link 20 Gilchrist BF, Shroff V, DeLuca FG, Woodworth C, Wesselhoeft CW. Management of thoracolaryngopelvic dysplasia. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 1996. link 21 Seftel MD, Wright CA, Po PL, de Ravel TJ. Lethal neonatal mandibuloacral dysplasia. American journal of medical genetics 1996. link1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P) 22 Hennekam RC, van Bever Y, Oorthuys JW. RETRACTED ARTICLE: Acromicric dysplasia and geleophysic dysplasia: similarities and differences. European journal of pediatrics 1996. link 23 Sklower Brooks S, Kassner G, Qazi Q, Keogh MJ, Gorlin RJ. Osteoglophonic dysplasia: review and further delineation of the syndrome. American journal of medical genetics 1996. link1096-8628(19961211)66:2<154::AID-AJMG6>3.0.CO;2-R) 24 Nieves Gil A, Gonzalez Molina E, Martinez Ayucar MM, Salado Marin C, Sancho Leza G, Lecumberri Castaños MJ. Metatropic dysplasia: a case report. American journal of perinatology 1995. link 25 Baxova A, Kozlowski K, Netriova I, Sillence D. Mesomelic dysplasia: Langer type. Australasian radiology 1994. link 26 Kivlin JD, Carey JC, Richey MA. Brachymesomelia and Peters anomaly: a new syndrome. American journal of medical genetics 1993. link 27 Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Cerebrofaciothoracic dysplasia: a new family. Journal of medical genetics 1992. link 28 Decsi T, Botykai A. Campomelic dysplasia without campomelia. Padiatrie und Padologie 1992. link 29 Takahashi H, Sando I, Masutani H. Temporal bone histopathological findings in campomelic dysplasia. The Journal of laryngology and otology 1992. link 30 Kiss P, Kozlowski K, Zavodi E. Rhizomelic bone dysplasia with club-like femora (case report and confirmation of a syndrome). Australasian radiology 1991. link 31 Ebensperger C, Jäger RJ, Lattermann U, Dagna Bricarelli F, Keutel J, Lindsten J et al.. No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Annales de genetique 1991. link 32 Maraia R, Saal HM, Wangsa D. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clinical genetics 1991. link 33 Macpherson RI, Skinner SA, Donnenfeld AE. Acampomelic campomelic dysplasia. Pediatric radiology 1989. link 34 Ohba K, Ohdo S, Sonoda T, Madokoro H. Acromesomelic dysplasia in a father and son: autosomal dominant inheritance. Acta paediatrica Japonica : Overseas edition 1989. link 35 Bagga A, Srivastava RN, Gupta S, Gupta A. Spondylometaphyseal dysplasia with hypercalcemia. Pediatric radiology 1989. link 36 Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME. Kyphomelic dysplasia. Journal of medical genetics 1989. link 37 Greenberg CR, Trevenen CL, Evans JA. The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation. Prenatal diagnosis 1988. link 38 Perri G, Vichi G, Pacini M, Jenuso R, Bartolozzi G, Calzolari C. Unusual cone shaped epiphyses in spondyloepiphyseal dysplasia. Case report. Pediatric radiology 1987. link 39 Stegner HE. Ultrastructure of preneoplastic lesions of the vulva. The Journal of reproductive medicine 1986. link 40 Aymé S, Preus M. Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. American journal of medical genetics 1986. link 41 Carter P, Burke JR, Searle J. Renal abnormalities and spondylometaphyseal dysplasia. Australian paediatric journal 1985. link 42 Slater CP, Ross J, Nelson MM, Coetzee EJ. The campomelic syndrome--prenatal ultrasound investigations. A case report. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1985. link 43 Kozlowski K, Beighton P. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin 1984. link 44 Fryns JP, Annicq P, Ulrix M, van den Berghe H. Congenital bowing of the long bones. An example of a campomelic syndrome of the short-limbed normocephalic subtype. Acta paediatrica Scandinavica 1983. link 45 Malkawi H, Tarawneh M. The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. Journal of pediatric orthopedics 1983. link 46 Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF et al.. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. American journal of medical genetics 1983. link 47 García-Castro JM, Isales-Forsythe CM, Díaz de Garau P. A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance. Journal of medical genetics 1982. link 48 Tóth Z, Vachter J, Szeifert G, Nemes Z, Csécsei K, Török O et al.. Antenatally diagnosed thanatophoric dysplasia. Acta paediatrica Academiae Scientiarum Hungaricae 1982. link 49 Wright CG, Rouse RC, Johnsson LG, Weinberg AG, Hubbard DG. Vaterite otoconia in two cases of otoconial membrane dysplasia. The Annals of otology, rhinology, and laryngology 1982. link 50 Moedjono SJ, Crandall BF, Sparkes RS, Feldman GM, Austin GE, Perry S. The campomelic syndrome in a singleton and monozygotic twins. Clinical genetics 1980. link 51 Burck U, Schaefer E, Held KR. Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia. Clinical and radiological differential diagnostic features. Pediatric radiology 1980. link 52 Hall BD, Spranger JW. Campomelic dysplasia. Further elucidation of a distinct entity. American journal of diseases of children (1960) 1980. link 53 Hori A, Orthner H, Kohlschütter A, Schott KM, Hirabayashi K, Shimokawa K. CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). A case report. Acta neuropathologica 1980. link 54 Perri G. A severe form of metatropic dwarfism. Pediatric radiology 1978. link

Dentate dysplasia