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SAS Journal of Medicine | Volume-9 | Issue-03
8p Microdeletion Syndrome Presenting as Congenital Scoliosis and Facial Dysmorphism with Novel Anomalies
Faizul Furquan Ansari, Nadella Lakshmi Thushara, Alok Kumar Singh, Hari Gaire, Prashant Kumar Verma
Published: March 27, 2023 | 189 116
DOI: 10.36347/sasjm.2023.v09i03.011
Pages: 208-209
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Abstract
8p deletion is a multisystem congenital disorder manifesting since early infancy with global developmental delay and other organ involvement. In our case the presentation was at 6 months with back deformity and developmental delay, dysmorphism and on further evaluation we found various structural anomalies. It needs a regular follow for early pick up of the associated comorbidities.