Cover Image

ACHONDROPLASTIC CHILD BORN TO AN ACHONDROPLASTIC MOTHER

KRITHIKA MEENAKSHI J

Abstract


Achondroplasia is one of a group of closely related chondrodysplasias. People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Pregnancy is associated with multiple complications. There is no specific treatment at present. Presented here with a case of an   achondroplastic woman delivering an achondroplastic  new-born which depicts an autosomal mode of inheritance

 


Full Text:

PDF

References


REFERENCES:

Stoll C, Dott B, Roth MP, Alembik Y: Birth prevalence rates of skeletal dysplasias. Clin Genet 1989, 35:88–92.

Trotter TL, Hall JG. The American Academy of Pediatrics Committee on Genetics: Health supervision for children with achondroplasia. Paediatrics 2005, 116:771–783.

Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M: Mutations in the gene encoding fibroblast growth factor receptor 3 in a chondroplasia. Nature 1994, 371:252–254

Shiang R, Thomson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winoku r ST, and Wasmuth JJ: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994, 78:335–342.

Ornitz DM, Marie PJ: FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002, 16:1446–1465.

Horton WA, Hall JG, Hecht JT: Achondroplasia. Lancet 2007, 370:162–172.

Mettler G, Fraser FC: Recurrence risk for sibs of children with “sporadic”achondroplasia. Am J Med Genet 2000, 90:250–251.

J. M. Parrot. Les malformations achondrodysplasiques. In: Bulletins de la Société d'anthropologie de Paris, 1878.

Holder JC, Fitz Randolph RL, Flanigan S. The spectrum of spinal stenosis. Curr Probe Diag Radiol 1985; 15:16.

Patel MD, Filly RA: Homozygous achondroplasia: distinction between homogygous, heterogygous and unaffected fetuses in the second trimester. Radiology 1995; 196:543-545.

Kurtz AB, Filly Ra, Wrapner R, et al. Inutero analysis of heterozygous achondroplasia: Variable time of onset as detected by femur length measurements. J Ultrasound M wed 1986; 5:137- 140.

Romero R, Athanassiadis AP, Jeanty P. Radiol Clin North Am 1989; 28: 75-98.

Terry R Yochum, Linsay J. Rowe. Skeletal dysplasia. In: Yochum and Rowe's. Essentials of Skeletal Radiology 3rd edn vol I, 2005;721-725

Wang H, Rosenbaum AE, Reid CS et al. Paediatric patients with achondroplasia: CT evaluation of cranio-cervical junction. Radiology 1987; 164:515

Richa Sharma, Arvind Kumar. “Achondroplasia and Pregnancy”. Journal of Evolution of Medical and Dental Sciences 2014; Vol. 3, Issue 16, April 21; Page: 4237-4240


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An Initiative of The Tamil Nadu Dr MGR Medical University