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Case Reports
. 2019 Apr 23;12(4):e229016.
doi: 10.1136/bcr-2018-229016.

Joubert syndrome with multiple pituitary hormone deficiency

Nese Akcan  1 , Firdevs Bas  2 , Sukran Poyrazoglu  2 , Ruveyde Bundak  3
Affiliations
Case Reports

Joubert syndrome with multiple pituitary hormone deficiency

Nese Akcan et al. BMJ Case Rep. .

Abstract

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.

Keywords: neuroendocrinology; neuroimaging; pituitary disorders.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Postaxial polydactyly of right hand and right foot.
Figure 2
Figure 2
Molar tooth sign. Axial Fluid Attenuated Inversion Recovery (FLAIR) MRI of the brain showed elongated superior cerebellar peduncles giving the appearance of MTS to midbrain and superior peduncles with cerebellar vermis hypoplasia. MTS, molar tooth sign.
Figure 3
Figure 3
Sagittal T1-weighted MRI showed pituitary agenesis.
See this image and copyright information in PMC

References

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