Prenatal diagnosis of a likely pathogenic variant in ZBTB18 : Natural evolution of fetal phenotype including the long bones and corpus callosum

A case of prenatal diagnosis of the corpus callosum lipoma at 32–33 weeks of gestation is presented. In a consultative examination, a hyperechoic formation with clear contours was found in the projection of the septum pellucidum, occupying the rostrum, genu, and truncus of corpus callosum, without signs of intratumorally blood flow in the color Doppler mapping mode. The prenatal diagnosis of "callosum lipoma" was established, confirmed after the birth of a child during magnetic resonance imaging.

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EP01.04: Prenatal diagnosis and postnatal outcome of agenesis of the corpus callosum: a retrospective multicentre study

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.18313 ◽

2017 ◽

Vol 50 ◽

pp. 258-258

Author(s):

K. Yusupov ◽

M. Esetov ◽

G. Bekeladze ◽

M. Ibatullin ◽

E. Nedopekina

Keyword(s):

Prenatal Diagnosis ◽

Corpus Callosum ◽

Multicentre Study ◽

Postnatal Outcome

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Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2005.01.028 ◽

2005 ◽

Vol 48 (2) ◽

pp. 199-206 ◽

Cited By ~ 6

Author(s):

Joris Andrieux ◽

Louise Devisme ◽

Anne-Sylvie Valat ◽

Yann Robert ◽

Chrystele Frnka ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Ring Chromosome ◽

Chromosome 6 ◽

Cerebellar Hypoplasia ◽

Review Of The Literature ◽

Agenesis Of Corpus Callosum ◽

Ring Chromosome 6

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Prenatal diagnosis of agenesis of the corpus callosum using endovaginal ultrasound.

Journal of Ultrasound in Medicine ◽

10.7863/jum.1990.9.6.363 ◽

1990 ◽

Vol 9 (6) ◽

pp. 363-365 ◽

Cited By ~ 9

Author(s):

P L Hilpert ◽

A B Kurtz

Keyword(s):

Prenatal Diagnosis ◽

Corpus Callosum ◽

Endovaginal Ultrasound

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Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis

Meta Gene ◽

10.1016/j.mgene.2018.06.006 ◽

2018 ◽

Vol 17 ◽

pp. 167-171 ◽

Cited By ~ 1

Author(s):

Maryam Rafati ◽

Seyedeh Zahra Tara ◽

Fatemeh Hoseininasab ◽

Saeed Reza Ghaffari

Keyword(s):

Prenatal Diagnosis ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Pathogenic Variant ◽

Whole Exome

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Neurodevelopmental outcome following prenatal diagnosis of a short corpus callosum

Prenatal Diagnosis ◽

10.1002/pd.5460 ◽

2019 ◽

Vol 39 (6) ◽

pp. 477-483 ◽

Cited By ~ 2

Author(s):

Roni Meidan ◽

Omer Bar‐Yosef ◽

Itay Ashkenazi ◽

Orr Yahal ◽

Michal Berkenstadt ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Corpus Callosum ◽

Neurodevelopmental Outcome

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Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

BJR|case reports ◽

10.1259/bjrcr.20200002 ◽

2020 ◽

pp. 20200002

Author(s):

Saulo Molina-Giraldo ◽

Jesus Armando Saucedo ◽

Antonio José Navarro-Devia ◽

Marcela Buitrago-Leal

Keyword(s):

Prenatal Diagnosis ◽

Ultrasound Imaging ◽

Type I ◽

Long Bones ◽

Rare Entity ◽

Associated Anomalies ◽

Detection Rates ◽

Live Births ◽

Prenatal Detection ◽

Rare Anomaly

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1–20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.

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