Meckel Gruber syndrome associated with anencephaly-an unusual reported case

Oxford Medical Case Reports
Houda Nasser Al Yaqoubi, Nishat Fatema

Abstract

Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities. This kind of ailment is infrequently reported in literature.

References

Dec 1, 1990·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·D A NybergD Hickok
Aug 1, 1984·American Journal of Medical Genetics·R Salonen
Sep 4, 2014·European Journal of Human Genetics : EJHG·Ingeborg BarisicChristine Verellen-Dumoulin
Mar 17, 2016·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Mehmet Aytac YukselRiza Madazli

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Citations

Nov 4, 2021·Science Advances·Dongliang LiuDeshun Gong
Jul 2, 2019·Pediatric Neurosurgery·Pinar Aydin OzturkUnal Ozturk

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