Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Berg, C.; Geipel, A.; Germer, U.; Pertersen-Hansen, A; Koch-Dörfler, M; Gembruch, Ulrich

doi:10.1046/j.1469-0705.2001.00374.x

Cited by 55 publications

(20 citation statements)

References 33 publications

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“…Minor criteria are congenital malformation of nose, ears or larynx, cleft lip and/or palate, skeletal defects, umbilical hernia, renal agenesis and mental retardation. Diagnosis is based on Thomas criteria; presence of at least 2 major and 1 minor criteria or at least 4 minor criteria [2]. This disease has been linked to a gene FRAS1 that is involved in skin epithelial morphogenesis during early development [3].…”

Section: Introductionmentioning

confidence: 99%

Vaginal Atresia in a Case of Fraser Syndrome

Rathod¹,

Dash²,

Mahapatra³

et al. 2013

J Obstet Gynecol India

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Section: Introductionmentioning

confidence: 99%

Vaginal Atresia in a Case of Fraser Syndrome

Rathod¹,

Dash²,

Mahapatra³

et al. 2013

J Obstet Gynecol India

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“…Indeed, fetuses with CHAOS and hydrops may survive for a long time in utero, so that they often reach viable gestational ages to allow delivery assisted by EXIT. However, as confirmed by previous reports, in spite of this approach, perinatal mortality remains high [1,2,3,4]. In the surviving cases, the quality of lung tissue is poor and rarely allows normal respiratory function, possibly due to dysplastic features resulting from long-term exposure to high airway pressure.…”

Section: Discussionmentioning

confidence: 77%

“…Perinatal death is the most common outcome [1,2]. Though the risk of chromosomal anomalies is extremely low, the association with nonchromosomal syndromes is high [1,2,3]. …”

Section: Introductionmentioning

confidence: 99%

Evaluation of Fetal Vocal Cords to Select Candidates for Successful Fetoscopic Treatment of Congenital High Airway Obstruction Syndrome: Preliminary Case Series

et al. 2013

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Objective: Congenital high airway obstruction syndrome (CHAOS) normally has a dire prognosis due to laryngeal atresia and association with other anomalies. However, rare cases with an isolated tracheal membrane have been described. We assessed systematically the larynx and vocal cords in fetuses with CHAOS, with the goal of identifying such cases and attempting fetoscopic deobstruction. Methods: Between 2008 and 2012, 7 cases of CHAOS were referred to our institution. The ultrasonographic aspect of the larynx and trachea was assessed. We report the ultrasound findings, necropsy findings of 6 cases and perinatal outcome in 1 case undergoing therapy. Results: In 6 cases, laryngeal atresia was presumed by ultrasound and confirmed by necropsy after termination of pregnancy. In 1 case, normal appearance of the vocal cords led to suspicion of a possible isolated tracheal web completely occluding the trachea. Fetoscopy confirmed the finding, thus the membrane was perforated. Lung size normalized and hydrops resolved. A normal fetus was delivered at term, requiring no respiratory support. At 9 months of age, the infant showed a normal laryngoscopy and was developing well. Conclusions: Systematic ultrasound assessment of the vocal cords can be performed in fetuses with CHAOS. We report the first case of long-term intact survival after fetoscopic airway deobstruction.

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“…Moreover, the most commonly associated genetic syndrome is Fraser syndrome, which is characterized by a variable expression of laryngeal atresia, cryptophthalmos, syndactyly, renal agenesis, and abnormalities of the ears and external genitalia. 8 Fetal MRI has also been an important tool in identifying these associated abnormalities and suspect genetic syndromes. The accurate identification of associated syndromes helps with management decisions and parental counseling.…”

Section: Discussionmentioning

confidence: 99%

A case report of congenital high airway obstruction syndrome (CHAOS) caused by complete laryngeal obstruction

Rahman

Khalequezzaman

Ahsan³

et al. 2015

PULSE

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CHAOS or Congenital High Airway Obstruction Syndrome is a blockage of the fetus's trachea or larynx due to a number of factors including narrowing of the airway, a web-like membrane or even tracheal atresia. In the uterus, the fetal lungs constantly produce fluid and as a result of this airway blockage in the trachea, the lung fluid cannot escape out of the fetal mouth. Because of this the fetus's lungs become distended with fluid and over distended lungs can put pressure on the heart and affect the heart's ability to function. If the heart cannot beat effectively hydrops or congestive heart failure can occur. We present a case of CHAOS with hydrops and associated anomalies, determined prenatally at about 21 weeks by MRI in our hospital.

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Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

Abstract: Fraser syndrome (cryptophthalmos-syndactyly

Cited by 55 publications

References 33 publications

Vaginal Atresia in a Case of Fraser Syndrome

Vaginal Atresia in a Case of Fraser Syndrome

Evaluation of Fetal Vocal Cords to Select Candidates for Successful Fetoscopic Treatment of Congenital High Airway Obstruction Syndrome: Preliminary Case Series

A case report of congenital high airway obstruction syndrome (CHAOS) caused by complete laryngeal obstruction

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