Published: 2021-07-23

Siblings with Imperforate anus and aplastic nasal alae: Johanson-Blizzard syndrome

Ashwini Harohalli Nagarasaraiah, Chinthan S. Gubbari, Varun Govindarajan, Chikkanarasa Reddy


Johanson-Blizzard syndrome is a rare genetic entity reported in medical literature resulting from mutations in UBR1 gene, affecting pancreas, craniofacial and urogenital development, causing significant morbidity and mortality. We report a neonate presenting with anorectal malformation requiring surgical intervention at birth, with similar surgeries being performed in two elder siblings. Surviving sibling of the proband neonate also has similar dysmorphic features of absent ala nasi, aplasia cutis of scalp along with pancreatic insufficiency, profound sensorineural hearing loss, pheno-type corresponding to Johanson-Blizzard syndrome. Syndromic diagnosis helps in screening for associated potential issues, which can intervened at early stages.


Johanson-Blizzard syndrome, Imperforate anus, Aplasia ala nasi, Aplasia cutis of scalp, Pancreatic insufficiency, Sen-sorineural hearing loss

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