Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2017 Jul-Sep;12(3):276-279.
doi: 10.4103/jpn.JPN_101_17.

Pallister-Hall Syndrome

Sadanandvalli Retnaswami Chandra  1 , Mane Maheshkumar Daryappa  2 , M A Mukheem Mudabbir  2 , M Pooja  1 , A Arivazhagan  1
Affiliations
Case Reports

Pallister-Hall Syndrome

Sadanandvalli Retnaswami Chandra et al. J Pediatr Neurosci. 2017 Jul-Sep.

Abstract

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.

Keywords: Hypothalamic hamartomas; Laurence–Moon–Biedl syndrome; Pallister–Hall syndrome; polydactyly.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Tongue tie. (b) Frontal bossing macrocephaly with small upper lip and philtrum. (c) Cleft in the upper lip and hard palate. (d) The picture of whole baby
Figure 2
Figure 2
Syndactyly of big toe and postaxial Type A polydactyly
Figure 3
Figure 3
Postaxial Type A polydactyly with an additional small rudimentary finger attached to little finger
Figure 4
Figure 4
(a) shows T1 axial isointense mass in suprasellar region 4 (b) T2 axial hyperintense mass and 4 (c) coronal section fluid-attenuated inversion recovery hyperintense mass in the suprasellar region
Figure 5
Figure 5
T1 sagittal section shows isointense mass extending from hypothalamus to sellar region
See this image and copyright information in PMC

References

    1. Watson BT, Hennrikus WL. Postaxial type-B polydactyly. Prevalence and treatment. J Bone Joint Surg Am. 1997;79:65–8. - PubMed
    1. Woolf CM, Myrianthopoulos NC. Polydactyly in American negroes and whites. Am J Hum Genet. 1973;25:397–404. - PMC - PubMed
    1. Castilla EE, Lugarinho R, da Graça Dutra M, Salgado LJ. Associated anomalies in individuals with polydactyly. Am J Med Genet. 1998;80:459–65. - PubMed
    1. Itrović B, Rozema LA. On the correct formula for the lifetime broadened superconducting density of states. J Phys Condens Matter. 2007;20:015215.
    1. Kulkarni ML, Rajendran NK, Sangam DK. Inner canthal, outer canthal and inter pupillary distance in newborns. Indian Pediatr. 1992;29:759–63. - PubMed

Publication types