Volume : IX, Issue : II, February - 2020

GAPO Syndrome in two siblings

Joji Reddy O, Abdul Gafoor J, Bandaru Mahesh Yadav, Manjeera Venkatesh G

Abstract :

We report two siblings, born out of a consanguineous marriage, presented with growth retardation, alopecia, unerupted teeth, persistent anterior fontanelle, large cornea and nystagmus. Imaging studies revealed delayed bone age, pseudo–anodontia, patent anterior fontanelle, hydrocephalus and hyperintense periventricular and deep white matter on T2 weighted MRI, pale optic disc on fundoscopy. Genetic tests revealed homozygous mutation in ANTXR1 gene in chromosome 2, confirming a diagnosis of GAPO (growth retardation, alopecia, pseudo–anodontia and optic atrophy) syndrome.

Article: Download PDF    DOI : https://www.doi.org/10.36106/paripex  

Cite This Article:

GAPO SYNDROME IN TWO SIBLINGS, Joji Reddy O, Abdul Gafoor J, Bandaru Mahesh Yadav, Manjeera Venkatesh G PARIPEX-INDIAN JOURNAL OF RESEARCH : Volume-9 | Issue-2 | February-2020

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