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.
© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / drug therapy
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Abnormalities, Multiple / etiology
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Abnormalities, Multiple / genetics
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Aftercare
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Brain / diagnostic imaging
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Cerebellum / abnormalities*
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Developmental Disabilities / diagnosis
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Developmental Disabilities / etiology
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Developmental Disabilities / genetics
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Diagnosis, Differential
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Eye Abnormalities / complications*
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Eye Abnormalities / diagnosis
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Eye Abnormalities / drug therapy
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Genital Diseases, Male / diagnosis
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Genital Diseases, Male / etiology
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Hormone Replacement Therapy / methods*
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Humans
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Hypoglycemia / diagnosis
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Hypoglycemia / etiology
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Infant, Newborn
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Kidney Diseases, Cystic / complications*
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Kidney Diseases, Cystic / diagnosis
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Kidney Diseases, Cystic / drug therapy
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Magnetic Resonance Imaging
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Male
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Penis / abnormalities
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Pituitary Hormones / deficiency*
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Pituitary Hormones / metabolism
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Retina / abnormalities*
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Steroids / administration & dosage
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Steroids / therapeutic use
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Treatment Outcome
Substances
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Pituitary Hormones
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Steroids
Supplementary concepts
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Agenesis of Cerebellar Vermis
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Penis agenesis