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

Radhapyari Lourembam; Manish Kumar Gupta; Poonam Sherwani; Prashant Kumar Verma

doi:10.1055/s-0042-1749367

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2024; 13(03): 227-231
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

¹Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

,

Manish Kumar Gupta

²Department of Pediatric Surgery, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

,

Poonam Sherwani

³Department of Radiodiagnosis, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

,

Prashant Kumar Verma

¹Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

› Institutsangaben

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

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References
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