Pallister-Hall Syndrome

Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up...

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Bibliographic Details
Published in:Journal of pediatric neurosciences 2017-07, Vol.12 (3), p.276-279
Main Authors: Chandra, Sadanandvalli Retnaswami, Daryappa, Mane Maheshkumar, Mukheem Mudabbir, M A, Pooja, M, Arivazhagan, A
Format: Article
Language:English
Subjects:
Bones
Care and treatment
Case Report
Cesarean section
Consent
Defects
Diagnosis
Electrolytes
Fingers & toes
Genetic aspects
Genetic counseling
Health aspects
Hypoglycemia
Infants
Intellectual disabilities
Mental health
Mutation
Neurology
Neurosciences
Pallister-Hall syndrome
Patients
Pediatricians
Physicians
Polydactyly
Practice
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Summary:Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly. The child presented with repeated vomiting and crying episodes. The patient was investigated which revealed a hypothalamic hamartomas. Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity.
ISSN:1817-1745
1998-3948
DOI:10.4103/jpn.JPN_101_17