Alterações ósseas no desenvolvimento da acondroplastia

Ana Carolina Mello Fontoura de Souza; Bruna Karas; Camilla Mattia Calixto; Gabriela Pires Corrêa  Pinto; Julia Henneberg Hessman; Gabriela Dias Silva Dutra Macedo

doi:10.53843/bms.v5i8.56

Authors

Ana Carolina Mello Fontoura de Souza Universidade Estadual de Ponta Grossa https://orcid.org/0000-0003-2324-1301
Bruna Karas Universidade Estadual de Ponta Grossa https://orcid.org/0000-0003-1301-9256
Camilla Mattia Calixto https://orcid.org/0000-0001-5464-0837
Gabriela Pires Corrêa Pinto Universidade Estadual de Ponta Grossa https://orcid.org/0000-0003-4471-0613
Julia Henneberg Hessman Universidade Estadual de Ponta Grossa https://orcid.org/0000-0002-9310-4508
Gabriela Dias Silva Dutra Macedo Universidade da Região de Joinville https://orcid.org/0000-0002-2245-2732

DOI:

https://doi.org/10.53843/bms.v5i8.56

Keywords:

Achondroplasia, Medical Imaging, Radiology, Bone Development Diseases, Dwarfism

Abstract

Introduction: Achondroplasia, the most common type of dwarfism, is a bone dysplasia that affects 1 in every 15000 to 40000 live births, characterized by a mutation in the fibroblast growth factor gene (FGFR3). This paper aims to highlight the bone changes present in achondroplasia and the possible radiological findings. Methods: Narrative literature review conducted from April to June 2019, selecting 41 articles from the Scielo, Virtual Health Library (VHL) and Pubmed databases. Five books were also consulted. Results: Numerous bone changes were found in achondroplastic individuals. The following were observed in the skull: decreased diameter of the foramen magnum, disproportion between viscerocranium and neurocranium, crowded dentition, mandibular prognathism, depressed nasal bridge, prominent frontal bone and central hypoplasia of the face. In the spine, the vertebral pedicles are shorter, vertebral canal stenosis, lumbar kyphosis, hyperlordosis, and scoliosis occur. The pelvis presents small and depressed ischial spines, rounded iliac ends, a square-shaped iliac fossa, and a horizontal acetabular roof. The sacrum is narrow and horizontal. In the limbs, rhizomelic shortening and bony prominences stand out. Fibular overgrowth occurs, with anterior tibial angulation, inability to everse the foot, and genu varum. In the upper limb, the radial head is flattened, limiting movement of the elbow. The hands are trident shaped, with short proximal phalanges and metacarpal deformities. The rib cage is small but broad, with short ribs and broadened anterior extremities. Discussion: The modifications mentioned corroborate the clinical and radiological findings in the diagnosis by ultrasonography from the twentieth gestational week and by radiography after birth. Conclusion: Of the changes described, those of the skull, spine, pelvis, limbs and chest stand out. There is still a need for more complete studies on the subject.

Metrics

Metrics Loading ...

References

Castro A, Gutiérrez A, Rodríguez LF, Pineda T, Velasco H, Arteaga C, et al. Análisis Mutacional De La Acondroplasia En 20 Pacientes Colombianos. Rev la Fac Med. 2010 Jul-Set; 58(3):185–90.

Couto CM. Acondroplasia: Características esqueléticas e cefalométricas da face [Tese de Mestrado]. Viseu: Instituto de Ciências da Saúde, Universidade Católica Portuguesa; 2017; 92 p.

Moore KL, Persaud TVN, Torchia MG. Embriologia básica. Rio de Janeiro: Elsevier; 2016. 384 p.

Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. 1986 Ago;23(4):328–32.

Calandrelli R, Panfili M, D’Apolito G, Zampino G, Pedicelli A, Pilato F, et al. Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology. 2017 Out; 59(10):1031–41.

Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Pract Res Clin Rheumatol. 2008 Mar; 22(1):3–18.

Júnior ALC. Alterações no esqueleto axial e alterações neurológicas na Acondroplasia [Tese de Mestrado]. Belo Horizonte: Universidade Federal de Minas Gerais, Faculdade de Medicina; 2014. 110 p.

Kliegman RM, Stanton BF, Geme JS, Schor N, Behrman RE. Nelson Tratado de Pediatria. São Paulo: Elsevier; 2013. 2872 p.

Fagen KE, Blask AR, Rubio EI, Bulas DI. Achondroplasia in the premature infant: An elusive diagnosis in the neonatal intensive care unit. AJP Rep. 2017 Jan;7(1):e8–12.

Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. Nova York: Oxford University Press; 2003. 632 p.

Albino FP, Wood BC, Oluigbo CO, Lee AC, Oh AK, Rogers GF. Achondroplasia and multiple-suture craniosynostosis. J Craniofac Surg. 2015 Jan; 26(1):222–5.

Cardoso R, Ajzen S, Andriolo AR, Oliveira JX, Andriolo A. Analysis of the cephalometric pattern of Brazilian achondroplastic adult subjects. Dental Press J Orthod. 2012 Dez; 17(6):118–29.

Moore KL, Dalley AF, Agur RMA. Anatomia Orientada para a Clínica. Rio de Janeiro: Guanabara Koogan; 2014. 1136 p.

Pauli RM. Achondroplasia: A comprehensive clinical review. Orphanet J Rare Diseases. 2019 Jan; 14(1):1–49.

McDonald RE. Dentistry for the Child and Adolescent. St. Louis: Mosby; 1974. 561 p.

Cardoso R, Ajzen S, Maria L, Ramos S, Costa C, Oliveira JX. Características cranianas , faciais e dentárias em indivíduos acondroplásicos. Rev Inst Ciênc Saúde. 2009 Abr-Jun; 27(2):171–5.

Björk A. Cranial base development: A follow-up x-ray study of the individual variation in growth occurring between the ages of 12 and 20 years and its relation to brain case and face development. Am J Orthod. 1955 Mar; 41(3):198–225.

Gordon N. The neurological complications of achondroplasia. Brain Dev. 2000 Jan; 22(1):3–7.

Richette P, Bardin T, Stheneur C. Achondroplasia: From genotype to phenotype. Jt Bone Spine. 2008 Mar; 75(2):125–30.

Sargar KM, Singh AK, Kao SC. Imaging of skeletal disorders caused by fibroblast growth factor receptor gene mutations. Radiographics. 2017 Out; 37(6):1813–30.

Chiba S, Abe S, Ohmori I. Oral manifestations of achondroplasia: a case report. Tsurum Shigaku. 1976 Jun; 2(1):35-43.

Silverman FN. Human Achondroplasia. 1a edição. New York: Plenum Press; c1988. Capítulo 5, Radiologic Features of Achondroplasia. p. 31-44.

Bailey JA. Orthopaedic aspects of achondroplasia. J Bone Joint Surg Am. 1970 Out; 52(7):1285–301.

Kopits SE. Human Achondroplasia. 1a edição. New York: Plenum Press; c1988. Capítulo 28, Orthopedic Aspects of Achondroplasia in Children. p. 189-97.

Canson BS, Groves M, Yassari R. Schmidek and Sweet Operative Neurosurgical Techniques, 6a edição. Philadelphia: Elsevier/Saunders; c2012. Capítulo 184, Neurologic Problems of Spine in Achondroplasia. p. 2091-9.

Thomas JN. Partial upper airway obstruction and sleep apnea. J Laryngol Otol. 1978 Jan; 92(1):41–6.

Elwood ET, Burstein FD, Graham L, Williams JK, Paschal M. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs. Cleft Palate-Craniofacial J. 2003 Jan; 40(1):100–3.

Langer LO, Baumann PA, Gorlim RJ, Robert J. Achondroplasia. American J Roentgenology. 1967 Ago; 100(1):12-26.

Hunter AGW, Bankier A, Rogers JG, Sillence D, Scott CI. Medical complications of achondroplasia: A multicentre patient review. J Med Genet. 1998 Set; 35(9):705–12.

Borkhuu B, Nagaraju DK, Chan G, Holmes L, MacKenzie WG. Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: A retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 2009 Jul; 34(16):1699–705.

Margalit A, McKean G, Lawing C, Galey S, Ain MC. Walking out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. J Pediatr Orthop. 2018 Nov-Dez; 38(10):491–7.

Abousamra O, Shah SA, Heydemann JA, Kreitz TM, Rogers KJ, Ditro C, et al. Sagittal spinopelvic parameters in children with achondroplasia. Spine Deform. 2019 Jan;7(1):163–70.

Kopits SE. Human Achondroplasia. 1a edição. New York: Plenum Press; c1988. Capítulo 34, Thoracolumbar Kyphosis and Lumbosacral Hyperlordosis in Achondroplastic Children. p. 241-55.

Khan BI, Yost MT, Badkoobehi H, Ain MC. Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 2016 Mar;4(2):145–8.

Spranger JW. Human Achondroplasia. 1a edição. New York: Plenum Press; c1988. Capítulo 14, The skull in achondroplasia. p. 103-7.

Ponseti IV. Human Achondroplasia. 1a edição. New York: Plenum Press; c1988. Capítulo 15, Bone formation in achondroplasia. p. 109-22.

Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul; 370(9582):162–72.

Boulet S, Althuser M, Nugues F, Schaal JP, Jouk PS. Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 2009 Jul;29(7):697–702.

Khalil A, Chaoui R, Lebek H, Esser T, Entezami M, Toms J, et al. Widening of the femoral diaphysis-metaphysis angle at 20-24 weeks: a marker for the detection of achondroplasia prior to the onset of skeletal shortening. Am J Obstet Gynecol. 2016 Fev;214(2):291–2

Ain MC, Shirley ED, Pirouzmanesh A, Skolasky RL, Leet AI. Genu varum in achondroplasia. J Pediatr Orthop. 2006 Mai-Jun;26(3):375–9.

McClure PK, Kilinc E, Birch JG. Growth Modulation in Achondroplasia. J Pediatr Orthop. 2017 Set; 37(6):e384–7.

Brooks JT, Bernholt DL, Tran KV, Ain MC. The tibial slope in patients with achondroplasia: Its characterization and possible role in genu recurvatum development. J Pediatr Orthop. 2016 Jun;36(4):349–54.

Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H. Elements of morphology: Standard terminology for the hands and feet. Am J Med Genet Part A. 2009 Jan; 149(1):93–127.

Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, Pathogenesis, and Therapy. Developmental Dynamics. 2016 Abr; 246(4):291-309.

Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, et al. The Population-Based Prevalence of Achondroplasia and Thanatophoric Dysplasia in Selected Regions of the US. Am J Med Genet A. 2018 Jul;146(18):2385–9.

Cialzeta D. Acondroplasia: una mirada desde la clínica pediátrica. Rev Hosp Niños BAires. 2009 Mar; 51(231):16–22.