Prenatal ultrasonographic appearance of the agnathia malformation complex.

Persutte, Wayne H.; Lenke, Roger R.; DeRosa, R

doi:10.7863/jum.1990.9.12.725

Cited by 10 publications

(7 citation statements)

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“…A later ultrasound scan at 29 weeks showed polyhydramnios – consistent with upper airway obstruction limiting fetal swallowing of amniotic fluid, suggesting atresia, constriction or obstruction of the oropharynx (23). Prenatal diagnosis of such difficult airways will become more common as radiology techniques improve (15, 24–27).…”

Section: Discussionmentioning

confidence: 99%

Airway management during an EXIT procedure for a fetus with dysgnathia complex

Baker¹,

Aftimos²,

Anderson

2004

Pediatric Anesthesia

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Nonsyndromal dysgnathia is a rare disorder with a probable genetic basis characterized by a hypoplastic or absent mandible (agnathia), microstomia, microglossia, and ear anomalies secondary to a defect in the ventral portion of the first branchial arch caused by defective neural crest migration or proliferation. Dysgnathic newborn infants often suffer fatal respiratory failure from airway obstruction. Nineteen children with isolated dysgnathia complex are described in the literature--six were stillborn, eight died shortly after birth, and only five survived infancy. All survivors required tracheostomy to maintain an airway. It is difficult to intubate the trachea of these children and early airway management planning is important. We report a neonate who presented with a prenatal ultrasound diagnosis of severe micrognathia, polyhydramnios and a family history of severe micrognathia. Airway management was achieved with fiberoptic intubation through a laryngeal mask airway (LMA) during an ex utero intrapartum treatment procedure. Fiberoptic intubation was hampered by copious amounts of amniotic fluid. This child and her sibling are the first two siblings with isolated dysgnathia complex to have survived infancy and provide further support for a genetic basis to this condition.

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Section: Discussionmentioning

confidence: 99%

Airway management during an EXIT procedure for a fetus with dysgnathia complex

Baker¹,

Aftimos²,

Anderson

2004

Pediatric Anesthesia

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“…To our knowledge, a total of nine in‐utero diagnoses of agnathia have been published in the literature3–7. All of those cases except one occurred with fatal anomalies such as holoprosencephaly, hydranencephaly, cyclopia, Dandy–Walker malformation and Potter syndrome, and were diagnosed by sonography or computerized tomography.…”

Section: Discussionmentioning

confidence: 99%

“…Most reported cases of agnathia were associated with anomalies of the forebrain or other organ systems. To date, fewer than 10 cases of prenatally diagnosed agnathia have been published3–7. Most of those cases were accompanied by fatal anomalies such as holoprosencephaly, cyclopia, hydranencephaly, Dandy–Walker malformation or Potter syndrome.…”

Section: Introductionmentioning

confidence: 99%

Prenatal sonographic diagnosis of isolated agnathia: a case report

Yang¹,

Seo²,

Lee³

et al. 2003

Ultrasound in Obstet & Gyne

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“…To date prenatal diagnosis of otocephaly has been reported only sporadically and mostly in the third trimester of pregnancy. [3][4][5][6][7] We describe a case of prenatal detection of otocephaly using high resolution, real-time ultrasonography; the case was diagnosed at 19 weeks 5 days of gestation and confirmed at autopsy. Pathologic correlation clearly confirmed the existence of isolated agnathia and synotia as the only indications of the syndrome complex, with neither brain nor other organ defects detected.…”

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confidence: 99%