Abstract
Achondroplasia, an autosomal dominant disorder, is one of the common causes of disproportionate dwarfism, with a worldwide prevalence of about 1:25,000-30,000. It is characterized by skeletal deformities, commonly affecting spine, secondary to genetic mutation in bone ossification. We present a case report of an achondroplastic primigravida with short stature, short neck, kyphoscoliosis and hypotonia of bilateral lower limb presenting for emergency LSCS. Anesthetic management of such cases can prove changing more so in emergency LSCS, owing to the physiological changes of pregnancy itself, which has been discussed in this case report.
Keywords: Achondroplasia, Spinal anaesthesia, Caeserean.
References
- Chaudhary V, Bano S. Imaging in short stature. Indian J Endocrinol Metab. 2012 Sep;16(5):692-7.
- Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019 Jan
- Bonaventure J, Rousseau F, Legeai‐Mallet L, Le Merrer M, Munnich A, Maroteaux P. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. American journal of medical genetics. 1996 May 3;63(1):148-54.
- Allanson JE, Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstetrics and Gynecology. 1986 Jan;67(1):74-8.
- Bancroft GH, Lauria JI. Ketamine induction for cesarean section in a patient with acute intermittent porphyria and achondroplastic dwarfism. Anesthesiology: The Journal of the American Society of Anesthesiologists. 1983 Aug 1;59(2):143.
- Nasir A, Mughal A, Siddiqui SZ. Anesthetic Challenges and Management of a Gravid Achondroplastic Dwarf. Int J Anesth Pain Med. 2018;4(1):7.
- Osorio Rudas W, Socha García NI, Upegui A, Ríos Medina Á, Moran A, Aguirre Ospina O, Rivera C. Anesthesia for cesarean section in a patient with achondroplasia. RevistaColombiana de Anestesiología. 2012 Dec;40(4):309-12.
- Celenk P, Arici S, Celenk C. Oral findings in a typical case of achondroplasia. Journal of international medical research. 2003 Jun;31(3):236-8.
- Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. Journal of Medical Genetics. 1979 Apr 1;16(2):140-6.
- Mitra S, Dey N, Gomber KK. Emergency cesarean section in a patient with achondroplasia: an anesthetic diliemma. J Anesth Clin Pharmacol. 2007 Jul 1;23:315-8.
Corresponding Author
Dr Priyanka Tetarwal
Junior Resident, Department of Anesthesiology, .P. Medical College and PBM hospital, Bikaner, India