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 geneĀ  in chromosome 2, confirming a diagnosis of GAPO (growth retardation, alopecia, pseudo-anodontia and optic atrophy) syndrome.


Keywords


GAPO; growth retardation; alopecia; pseudo-anodontia; ANTXR1 gene.

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