The current role of imaging in the prenatal diagnosis of fetal achon-droplasia medical management and dental implications
Abstract
We present the case of a patient with the following diagnosis: 29 weeks pregnancy in evolution, fetal achondroplasia with orofacial manifestations: macrocephaly, domed forehead, depressed nasal bridge, maxillary hypoplasia and general manifestations: short fingers, swelling of the back of the hand, increased angle between the femoral head and the femoral shaft, dorsal swelling of the foot, micromelia. The diagnosis was established prenatally after an ultrasound complex investigation and confirmed postnatally. We emphasize the increasingly important current role of the prenatal ultrasound investigation in early diagnosis of congenital anomalies like fetal achondroplasia and in the correct multidisciplinary management of cases.
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Rohilla S, Kaushik A, Vinod VC, Tanwar R, Kumar M. Orofacial manifestations of achondroplasia. EXCLI J. 2012 Aug 27;11:538-42. eCollection 2012.
Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet. 1986 Aug;23(4):328-32.
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994 Sep 15;371(6494):252-4.
Jones KL. Achondroplasia Smith's recognizable patterns of human malformation. 4th. Philadelphia, PA: WB Saund-ers; 1988.
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 3rd. New York: Oxford University Press; 1990.
Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009 Apr;17(4):231-41.
Al-Saleem A, Al-Jobair A. Achondroplasia: Craniofacial manifestations and considerations in dental management. The Saudi Dental Journal.2010; 22, 195-199.
Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hyperten-sion. J Neurosurg. 1989 Jul;71(1):42-8.
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998 Sep;35(9):705-12.
Richardson N. Achondroplasia. Physiopedia. 1-8. Available at: http://www.physio-pedia.com/Achondroplasia. Accessed April 30, 2014.
de Morais Gallarreta FW, Bernardotti FP, de Freitas AC, de Queiroz AM, Faria G. Characteristics of individuals with hydrocephalus and their dental care needs. Spec Care Dentist. 2010 Mar-Apr;30(2):72-6. doi: https://doi.org/10.1111/j.1754-4505.2009.00122.x.
Jennifer S. Sherry, Sophia Aponte. Oral health concerns associated with genetic disorder commonly referred to as dwarfism. RDH, Volume 35, Issue 8, August 26, 2015.
Langer LO Jr, Baumann PA, Gorlin RJ. Achondroplasia. Am J Roentgenol Radium Ther Nucl Med. 1967 May;100(1):12-26.
Vaccaro A.R., Albert T.J. Thieme Medical Publication; New York: 2001. Master Cases: Spine Surgery. p. 481.
Onodera K., Sakata H., Niikuni N., Nonaka T., Kobyashi K., Nakazima I. Survey of the present status of sleep-disordered breathing in children with achondroplasia, Part I. A questionnaire survey. IJPORL. 2005;69:457–461.
Wagaiyu EG, Ashley FP. Mouthbreathing, lip seal and upper lip coverage and their relationship with gingival in-flammation in 11-14 year-old schoolchildren. J Clin Periodontol. 1991 Oct;18(9):698-702.
Stephen L, Holmes H, Roberts T, Fieggen K, Beighton P. Orthodontic management of achondroplasia in South Afri-ca. S Afr Med J. 2005 Aug;95(8):588-9.
Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B. 2001 Jul;10(3):238-47.
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83.
Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B. 2001 Jul;10(3):238-47.
Oncescu, A., Albu, D. and Albu, C. The utility of the echographic exam in detection of cromosomal abnormalities and other plurimarformative syndromes associated with Dandy Walker syndrome: review of 15 cases in 2012. Ultra-sound Obstet Gynecol,2013; 42: 149. doi: https://doi.org/10.1002/uog.13039.
Albu, C., Albu, D. and Oncescu, A. Prenatal ultrasound diagnosis and follow up treatment of a giant lateral abdomin-al wall hemangioma. Ultrasound Obstet Gynecol, 2013; 42: 139. doi: https://doi.org/10.1002/uog.13006.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Pract Res Clin Rheu-matol. 2008 Mar;22(1):3-18. doi: https://doi.org/10.1016/j.berh.2007.12.008.