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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2018; 28(04): 456-459
DOI: 10.4103/ijri.IJRI_173_18
Pediatric

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report

Laxman Basani
Departments of Neonatology, Dolphin Children’s Hospital, Hyderabad, Telangana, India
,
Roja Aepala
Departments of Neonatology, Dolphin Children’s Hospital, Hyderabad, Telangana, India
,
Naresh Macha
Departments of Radiology, Dolphin Children’s Hospital, Hyderabad, Telangana, India
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Abstract

Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. In addition to the skeletal abnormalities, hydrocephalus, hydronephrosis, and congenital heart disease have been reported. We describe a preterm neonate who presented with respiratory failure and clinical features of CD. Our case had only 10 pairs of ribs, and to the best of our knowledge this is the first case report of CD with 10 pairs of ribs.

Keywords

Campomelic dysplasia - neonate - skeletal dysplasia - 10 pairs of ribs


Publication History

Article published online:
26 July 2021

© 2018. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Taybi H, Lachman RS. Campomelic dysplasia. In: Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. 3rd ed. London: Year Book Medical Publishers; 1990: 694-5
    Google Scholar
  • 2 Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF. et al. The campomelic syndrome: Review, report of 17 cases, and follow up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am Med Genet 1983; 15: 3-28
    CrossrefPubMedGoogle Scholar
  • 3 Jo A, Denduluri S, Zhang B, Wang Z, Yin L, Yan Z. et al. The versatile functions of Sox9 in development, stem cells, and human diseases. Genes Dis 2014; 1: 149-61
    CrossrefPubMedGoogle Scholar
  • 4 Maroteaux P, Spranger J, Opitz JM, Kucera J, Lowry RB, Schimke RN. et al. The campomelic syndrome. Presse Med 1971; 79: 1157-62
    PubMedGoogle Scholar
  • 5 Jones KL. Smith’s Recognizable patterns of Human Malformation. 5th ed. Philadelphia: WB Saunders; 1997: 344-5
    Google Scholar
  • 6 Superti-Furga A, Unger S. The Nosology Group of the International Skeletal Dysplasia Society. International Nosology and Classification of Skeletal Disorders F2006 Revision. Am J Med Genet A 2007; 143A: 1-18
    CrossrefPubMedGoogle Scholar
  • 7 Bi W, Deng JM, Zhang Z, Behringer RR, de Crombrugghe B. Sox9 is required for cartilage formation. Nat Genet 1999; 22: 85-9
    CrossrefPubMedGoogle Scholar
  • 8 Bell DM, Leung KK, Wheatley SC, Ng LJ, Zhou S, Ling KW. et al. SOX9 directly regulates the type-II collagen gene. Nat Genet 1997; 16: 174-8
    CrossrefPubMedGoogle Scholar
  • 9 Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J. et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994; 79: 1111-20
    CrossrefPubMedGoogle Scholar
  • 10 Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. Prenatal diagnosis of congenital anomalies. East Norwalk, CT: Appleton and Lange; 1988
    Google Scholar