Vol. 5 (05) pp. 1545-1547 DOI: 10.21474/IJAR01/4280

KABUKI SYNDROME?A RARE CASE REPORT.

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  • Junior Resident, Department of Pediatrics, M. K. C. G Medical College, Berhampur, Ganjam, Odisha-760004,India.
  • Associate Professor, Department of Pediatrics, M.K.C.G Medical College, Berhampur, Ganjam, Odisha-760004, India.
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Abstract

Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the ?Pentad of Niikawa?: dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency.In addition,they may also manifest cardiac anomalies, urinary anomaly, feeding difficulties,hearing loss and hypotonia. Here we present a case of 1year old female baby who had abnormal facies, global developmental delay and poor weight gain with delayed dentition and microcephaly. The ECHO cardiography showed large Atrial septal defect(ASD).Because of presence of these features a diagnosis of Kabuki syndrome was made. There are few reported cases of kabuki syndrome from India. This is first case reported from Odisha, signifying its global prevalance but rare reporting.

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References

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How to Cite This Article

Nasreen Ali, Sunil Kumar Agarwalla, Muhamed Shabeer and Momin Nawed. (2017); KABUKI SYNDROME?A RARE CASE REPORT., Int. J. of Adv. Res., 5 (05), 1545-1547, ISSN 2320-5407. DOI: https://doi.org/10.21474/IJAR01/4280

Corresponding Author

nasreen ali
Junior resident
Creative Commons Attribution 4.0 This work is licensed under a Creative Commons Attribution 4.0 International License.