Download PDF
J Pediatr Genet
DOI: 10.1055/s-0042-1749367
Case-Based Review

Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima–Morton–Nance Syndrome from Asia

Radhapyari Lourembam
1   Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
,
Manish Kumar Gupta
2   Department of Pediatric Surgery, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
,
Poonam Sherwani
3   Department of Radiodiagnosis, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
,
Prashant Kumar Verma
1   Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
› Author Affiliations Funding None.
› Further Information
    Permissions and Reprints

Abstract

Casamassima–Morton–Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then, only seven such cases have been reported so far. CMNS phenotype shows a significant clinical variability as documented in the reported cases. Etiology remains unknown yet, and it carries a poor prognosis. Here, we reported on a young female infant born out of nonconsanguineous marriage with normal karyotype and spondylocostal dysostosis, anal and genitourinary malformations suggesting CMNS. Ours is the eighth, and first case entity of CMNS reported from Asia as per the literature search. In our case, the additional feature of bilateral clubfoot has not been documented earlier in the literature. It extends the clinical spectrum of the syndrome and prompts us to consider it a close differential diagnosis to VACTERL (vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula/esophageal atresia, renal anomalies, limb abnormalities) syndrome, which is commonly known and diagnosed. It also raises the question of whether cases of CMNS are being misdiagnosed as VACTERL syndrome due to its rarity.

Keywords

Casamassima-Morton-Nance syndrome - anal atresia - spondylocostal dysostosis - genitourinary abnormalities

Authors' Contributions

All authors collected the data and edited the manuscript.




Publication History

Received: 05 July 2021

Accepted: 24 March 2022

Article published online:
11 July 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Casamassima AC, Morton CC, Nance WE. et al. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 1981; 8 (01) 117-127
    CrossrefPubMedGoogle Scholar
  • 2 Thauvin-Robinet C, Laurent N, Rousseau T. et al. Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?. Eur J Med Genet 2007; 50 (01) 85-91
    CrossrefPubMedGoogle Scholar
  • 3 Salinas-Torres VM. Fetus with Casamassima-Morton-Nance syndrome and limb-body wall defect: presentation of a novel association and review of the phenotype. Pediatr Dev Pathol 2016; 19 (02) 159-164
    CrossrefPubMedGoogle Scholar
  • 4 Sasaki A, Hayashi S, Oi R. et al. A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1). Prenat Diagn 2011; 31 (04) 407-409
    CrossrefPubMedGoogle Scholar
  • 5 Daïkha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P. Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. Am J Med Genet 1998; 80 (05) 514-517
    CrossrefPubMedGoogle Scholar
  • 6 Aguinaga M, Yllescas E, Canseco M, Machuca A, Acevedo S, Mayén Molina DG. Prenatal clinical characteristics of Casamassima-Morton-Nance syndrome. Prenat Diagn 2009; 29 (02) 175-176
    CrossrefPubMedGoogle Scholar
  • 7 Weraduwage H, Manton N, Barnett CP. A new case of Casamassima-Morton-Nance (CMN) syndrome presenting prenatally as VACTERL association. Case Rep Perinat Med 2014; 4 (01) 51-55
    CrossrefPubMedGoogle Scholar