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Annals of Indian Academy of Neurology
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CASE REPORT
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An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy


1 Department of Neonatology, Fernandez Foundation, Hyderabad, Telangana, India
2 Medical Genetics, Fernandez Foundation, Hyderabad, Telangana, India

Correspondence Address:
Rajendra Prasad Anne,
Consultant Neonatologist, NICU, Unit 2, Fernandez Foundation, Opposite Old MLA Quarters, Hyderguda, Hyderabad - 500 029, Telangana
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_1108_20

We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle hypertrophy in addition to left foot talipes. On evaluation, there were renal cortical cysts, rhizomelia, chondrodysplasia punctata and elevated muscle enzymes, along with a dilated third ventricle. As the phenotype was not consistent with any of the muscular dystrophies or the peroxisomal disorders, an exome sequencing was requested. It revealed a combination of Zellweger syndrome and Ullrich congenital muscular dystrophy type 1.


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