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No CHARGES for guessing
*Corresponding author: Dr. Bhavya Shah, Division of Neonatology, Department of Pediatrics, Bai Jerabai Wadia Hospital for Children, Mumbai, Maharashtra, India. bhavya87@gmail.com
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Received: ,
Accepted: ,
How to cite this article: Dande V, Shah B. No CHARGES for guessing. Wadia J Women Child Health 2022;1(1):49-50.
The full term, male, low birth weight born to 21 years old primigravida mother conceived spontaneously of a non-consanguineous marriage. The antenatal and intrapartum period was not significant. Baby developed severe respiratory distress soon after birth and on examination, was dysmorphic as shown in the [Figure 1a-d].
- (a) Infranuclear Bell’s palsy, (b) B/L cleft lip, (c) Lop ear, (d) Folded helix of ear.
Dysmorphic features noted are- Infra- nuclear Bell’s Palsy [Figure 1a], Bilateral cleft lip and cleft palate [Figure 1a and b], Dysplastic ears or “Lop ear [Figure 1c and d].” These features lead us to diagnosis of coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities (CHARGE)[1] as there was major criteria of CHARGE ear and Cranial nerve abnormalities with minor criteria of bilateral cleft lip and palate,[2] however for confirmation of diagnosis molecular testing is required.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
- New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. Am J Med Genet C Semin Med Genet. 2017;175:397-406.
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