<scp>CHARGE</scp> syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia

Tempfer-Bentz, Eva-Katrin; Troebs, Ralf-Bodo; Sonntag, Cheyenne C.; Rezniczek, Günther A.; Tempfer, Clemens B.

doi:10.1002/uog.13239

Cited by 3 publications

(2 citation statements)

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“…Diagnosis of CHARGE syndrome requires the detection of at least two major criteria and any amount of minor criteria. 4 , 5 , 6 , 7 , 8 However, most of the requirements are difficult to meet in prenatal ultrasonography. Clinical examinations at birth revealed abnormalities in the inner and outer ear, with bilateral hearing loss in almost all cases.…”

Section: Introductionmentioning

confidence: 99%

“…Secondary criteria include cranial nerve dysfunctions such as hearing loss, dysphagia/feeding difficulties, structural brain abnormalities, developmental delay/ID/autism, hypothalamo‐hypophyseal dysfunction (gonadotropin or growth hormone deficiency), genital abnormalities, cardiac or esophageal malformations, renal anomalies, and skeletal/limb abnormalities. Diagnosis of CHARGE syndrome requires the detection of at least two major criteria and any amount of minor criteria 4–8 . However, most of the requirements are difficult to meet in prenatal ultrasonography.…”

Section: Introductionmentioning

confidence: 99%

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CHARGE syndrome with early fetal ear abnormalities: A case report

Liang,

He,

Yang

et al. 2024

Clinical Case Reports

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Key Clinical MessageCHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis.AbstractCHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the CHD7 gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

CHARGE syndrome with early fetal ear abnormalities: A case report

Liang,

He,

Yang

et al. 2024

Clinical Case Reports

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CHARGE Syndrome

2016

Diagnostic Imaging: Obstetrics

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Prenatal Sonographic Features of CHARGE Syndrome

et al. 2021

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CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

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CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia

Cited by 3 publications

References 5 publications

CHARGE syndrome with early fetal ear abnormalities: A case report

CHARGE syndrome with early fetal ear abnormalities: A case report

CHARGE Syndrome

Prenatal Sonographic Features of CHARGE Syndrome

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