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Year : 2014  |  Volume : 3  |  Issue : 3  |  Page : 218-219

Achondroplasia: A rare case

Department of Pediatrics, Maharajahs Institute of Medical Sciences, Nellimarla, Vizianagram, Andhra Pradesh, India

Date of Web Publication17-Sep-2014

Correspondence Address:
Tarakeswara Rao Pikala
305, Aishwarya Residency, Baba Metta, Vizianagram, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.140956

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How to cite this article:
Yerramilli VS, Pikala TR, Ram KD, Sindura K. Achondroplasia: A rare case. J NTR Univ Health Sci 2014;3:218-9

How to cite this URL:
Yerramilli VS, Pikala TR, Ram KD, Sindura K. Achondroplasia: A rare case. J NTR Univ Health Sci [serial online] 2014 [cited 2022 Jan 22];3:218-9. Available from: https://www.jdrntruhs.org/text.asp?2014/3/3/218/140956


The incidence of achondroplasia is very low, and the birth of a newborn baby with achondroplasia to unaffected parents is a rarity. Achondroplasia is a genetic disorder of bone growth and usually is evident at birth. It affects about 1 in 10,000 to 1 in 30,000 births and occurs in all races and both sexes. [1] It is the most common of a group of growth defects characterized by abnormal body proportions: Short stature with disproportionate short limbs. [1],[2] It is caused by a mutation in a gene, fibroblast growth factor receptor 3, that is located in chromosome 4, which is one of the physiological regulators of linear bone growth. [3],[4] The mutation leads to excessive tyrosine kinase activity in the receptors within the cartilaginous growth plate, thereby inhibiting bone growth. [5]

The 23-year-old primi woman who was not a registered case in our hospital presented at labor ward at a gestational age of 37 weeks with 7 h history of draining liquor. Antenatally there was no significant history. There was no history of fever with rash, abdominal pain, trauma, dysuria, vaginal discharge, vaginal bleeding, radiation, drug exposure or family history of achondroplasia. No ultrasound examination was done, and pregnancy had been uneventful until presentation. She was referred to our hospital because of spontaneous rupture of membranes.

On clinical examination revealed a woman who was in painful distress, afebrile, anicteric but pale. Her height was 153 cm and weighed 52 kg. The height of her husband was 168 cm. Neither had any features of achondroplasia. She delivered a live male child by normal vaginal delivery who had features of achondroplasia [Figure 1]. The baby weighed 2.2 kg. The baby had a relatively large head circumference of 39 cm, which was more than 97 th percentile of normal for age. Length of trunk was normal. The baby had short limbs, broad hands and feet with a protruded abdomen and large anterior and posterior fontanel. The baby had classical features of achondroplasia [Figure 1]. To the best of our knowledge, this is the first reported case of achondroplasia born to unaffected parents in Vizianagram district of Andhra Pradesh. The outcome and future prognosis appear bleak. However, proper counseling and follow-up are needed. There is also a need to establish preconception clinics and facilities for prenatal genetic diagnosis and gene therapy in developing countries.
Figure 1: Achndroplasia with rhizomelic

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The term achondroplasia was coined over a century ago to distinguish individuals with disproportionate short stature from individuals with a proportionate short stature. The pathophysiology of the genetic mutation for de novo achondroplasia remains hypothetical. Fryns et al. [6] had suggested germinal mosaicism, and Opitz [7] suggested unstable premutation with reduced penetrance. The study has also shown that advanced paternal age, particularly over 35 years, strongly correlates with achondroplasia and certain other autosomal dominant conditions caused by new mutations. [8] This was not applicable in the reported case since both parents were younger than 35 years old. Prenatal genetic diagnosis may be made through amniocentesis and chorionic villus sample. Second-trimester ultrasonography also may be diagnostic. Owing to the routine prenatal ultrasound examination in developed countries, achondroplasia of many affected fetuses is recognized in the third trimester of pregnancy, and so families can be prepared for the birth of an affected child. The features of achondroplasia can easily be identified clinically and radiologically at birth and infancy. The rhizomelic appearance is pathognomonic. Features include a long narrow trunk with very short limbs, macrocephaly with frontal bossing, hyperextensible joints, abducted hip, moderate hypotonia, and delayed milestones. The radiological features include a large cranium with a protuberant forehead, short long bones, and a V-shaped appearance of distal femoral epiphyses. However, for about 20% of affected individuals, achondroplasia may not be recognized at birth. [2] In doubtful cases, genetic testing using a blood sample may be done. In the case reported, diagnosis was made by using the physical features and autopsy result of the previous baby. Genetic studies could be diagnostic and therapeutic. However, such facilities are not available in our center. The management of recurrent achondroplasia is more difficult and challenging in resource-poor countries. This is because of the unavailability of tools for genetic diagnosis and therapy. Human growth hormone and osteotomies (surgical limb lengthening) had been used with very limited success to increase stature in children and are no longer recommended. Some recent therapeutic innovations are based on the pathogenesis of achondroplasia. With emerging knowledge of the molecular pathogenesis, interest has begun to shift to therapy intended to counter the effects of the overactive receptor. All of these therapeutic approaches are in the early stages of development. However, they are promising and will reach the clinical trial phase of development. In developing countries where gene therapy is not available, donor insemination, ovum donation, and child adoption may be options for the management of recurrent de novo achondroplasia.

  References Top

1.Stoll C, Dott B, Roth MP, Alembik Y. Birth prevalence rates of skeletal dysplasias. Clin Genet 1989;35:88-92.  Back to cited text no. 1
2.Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005;116:771-83.  Back to cited text no. 2
3.Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-4.  Back to cited text no. 3
4.Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-42.  Back to cited text no. 4
5.Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002;16:1446-65.  Back to cited text no. 5
6.Fryns JP, Kleczkowska A, Verresen H, van den Berghe H. Germinal mosaicism in achondroplasia: A family with 3 affected siblings of normal parents. Clin Genet 1983;24:156-8.  Back to cited text no. 6
7.Opitz JM. "Unstable premutation" in achondroplasia: Penetrance vs phenotrance. Am J Med Genet 1984;19:251-4.  Back to cited text no. 7
8.Horton WA. Molecular pathogenesis of achondroplasia. Growth Genet Horm 2006;22:49-54.  Back to cited text no. 8


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