CareLit · DOI-Nachweis · Ultraschall in der Medizin - European Journal of Ultrasound
Abnormal posterior brain and molar tooth sign in a fetus with Joubert syndrome at 11 – 13 weeks – new gene mutation discovered: Case report
DOI 10.1055/s-0036-1587871
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Autor:innenA Brückmann, D Brückmann, A Hering, R Lachmann
ZeitschriftUltraschall in der Medizin - European Journal of Ultrasound
Ausgabe08/2016
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Purpose: Joubert syndrome (JS), a rare autosomal recessive disorder, is characterized by the molar tooth sign on an axial magnetic-resonance-imaging (MRI). This abnormality results from a complex brainstem malformation and co-occurs with agenesis/hypoplasia of the cerebellar vermis, that leads to an abnormal enlargement of the fourth ventricle (4V). The adverse outcome of JS is characterized by episodes of hyperpnea…
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Zitierempfehlung
A Brückmann, D Brückmann, A Hering, R Lachmann (2016) Abnormal posterior brain and molar tooth sign in a fetus with Joubert syndrome at 11 – 13 weeks – new gene mutation discovered: Case report. Ultraschall in der Medizin - European Journal of Ultrasound (08). https://doi.org/10.1055/s-0036-1587871
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