Case Report
Volume 10 Issue 12 - 2021
Campomelic Dysplasia, Not So Much Frequent Not So Much Rare Diagnostic Dysmorphic Syndrome

Carlos Sanchez Salguero*

Pediatric Department, Al Zahra Hospital, Dubai, United Arab Emirates
*Corresponding Author: Carlos Sanchez Salguero, Pediatric Department, Al Zahra Hospital, Dubai, United Arab Emirates.
Received: October 06, 2021; Published: November 20, 2021




Abstract

Campomelic dysplasia is a clinical picture characterized by symmetrical curvature and shortening of the lower extremities, peculiar and generally fatal facies due to respiratory failure. This disease is associated in 50% of the cases with gonadal dysgenesis with a female phenotype and an XY karyotype. It is a genetically determined process linked to mutations in the SOX9 gene.

We present the clinical case of a newborn woman, 37 weeks of gestational age, diagnosed prenatally with bone dysplasia, with a phenotype and radiological study compatible with the characteristics of this disease. The concordance between the female phenotype and its XX chromosomal formula stands out. During her stay, she presented progressive respiratory distress, dying at 27 days of age due to multiple organ failure.

Keywords: Campomelia; Dysplasia; Karyotype

References

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Citation: Carlos Sanchez Salguero. “Campomelic Dysplasia, Not So Much Frequent Not So Much Rare Diagnostic Dysmorphic Syndrome”. EC Paediatrics 10.12 (2021): 59-62.

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