Otocephaly Complex

Diep, Jack; Kam, David; Munir, Farrah; Shulman, Steven; Atlas, Glen

doi:10.1213/xaa.0000000000000340

Cited by 3 publications

(1 citation statement)

References 45 publications

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“…Respiratory failure was cited as the cause of death for those who died within days to weeks. Tracheostomy tubes were placed in four of the 23 infants that died within neonatal period (Akiyama et al, 2013;Baker et al, 2004;Black et al, 1973;Brown & Marsh, 1990;Dao et al, 1988;Dasouki et al, 2013;Diep et al, 2016;Erlich et al, 2000;Falcon et al, 2004;Faye-Peterson et al, 2006;Golinko et al, 2015;Herman et al, 2012;Hisaba et al, 2014;Jagtap et al, 2015;Johnson & Cook, 1961;Kajiwara et al, 2016;Kamiji et al, 1991;Khan et al, 2008;O'Neill et al, 2003;Pauli et al, 1981;Peiffer et al, 1992;Schiffer et al, 2002;Schmotzer & Shehata, 2008;Scholl, 1977;Shermak & Dufresne, 1996;Stoler & Holmes, 1992;Tantbirojn et al, 2008;Tsai et al, 1999;Ursell, 1972;Walker et al, 1995;Woon & Tan, 1979;Yang et al, 2003).…”

Section: Clinical Presentation and Literature Reviewmentioning

confidence: 99%

A case of rare isolated agnathia and literature review

Alexander

Chandy

Barton

et al. 2020

American J of Med Genetics Pt A

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Agnathia is a rare congenital malformation with unknown etiology characterized by absence of the mandible, microstomia, and tongue aplasia, often found to have other anomalies including holoprosencephaly. The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's management of isolated agnathia with microstomia and tongue aplasia. A literature review was performed with focus on diagnosis, airway, and feeding management of isolated agnathia. Polyhydramnios was a common pregnancy complication reported in 25 out of the 39 patients in the case study. Five infants were stillborn, while 23 died within the neonatal period. Of the deceased infants within the neonatal period, 19 died within minutes to hours while four died within days to weeks. There are nine patients with agnathia that survived past infancy. The results of this study suggest that isolated agnathia is a rare malformation which requires a multi‐disciplinary approach for airway and feeding management.

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Section: Clinical Presentation and Literature Reviewmentioning

confidence: 99%

A case of rare isolated agnathia and literature review

Alexander

Chandy

Barton

et al. 2020

American J of Med Genetics Pt A

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The Developmental Origin of the Auricula Revisited

2019

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Objectives/Hypothesis Congenital auricular anomalies are common. Additionally, the auricle plays an important role in the staging of human embryos. However, little is known about the embryological development of the auricle. The most commonly reproduced developmental theory by His (1885) describes six hillocks; three on the first and three on the second pharyngeal arch. The aim of this study was to assess the validity of this theory by modern techniques and to expand the knowledge of the embryological development and morphology of the auricle. Study Design 22 human embryos from the Carnegie collection between Carnegie stage 13 and 23 (28–60 days) were selected based on their histological quality. Methods Histological sections of the selected embryos were examined. Three‐dimensional (3D) reconstructions were prepared. Additionally, literature research was performed. Results The hillocks were absent in most stages. Contrary to common knowledge, the auricle is almost entirely innervated by branches of the facial nerve. The branches of the trigeminal nerve only innervate the tragus and the anterior external auditory meatus (EAM). Consequently, this indicates that almost the entire auricle is derived from the second pharyngeal arch, with the exception of the tragus and the anterior EAM. Conclusions The 3D reconstructions show the anatomy and development of the auricle to be different from concepts presented in current textbooks. As a consequence, we propose that preauricular sinuses should be classified as first pharyngeal arch anomalies. Level of Evidence NA Laryngoscope, 130:2467–2474, 2020

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Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

Puricelli,

Barr,

Ellefson

et al. 2024

The Laryngoscope

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ObjectiveTo characterize incidence of mandibular anomalies (MAs) and compare gestational age, airway interventions, and complications among individuals with MA phenotypes (isolated retrognathia, isolated micrognathia, syndromic micrognathia, micrognathia plus cleft palate/cleft lip and palate, agnathia/micrognathia plus cervical auricle/otocephaly, and agnathia/micrognathia plus microstomia) and unaffected individuals.MethodsThe Healthcare Cost and Utilization Project Kids' Inpatient Database was used to collect data over a 20‐year period beginning in 2000. Interventions were classified as perinatal when performed on day of life (DOL) 0 or 1 and subsequent when performed during the birth hospitalization after DOL 1. Hypoxic complications included cardiac arrest, birth asphyxia, hypoxic–ischemic encephalopathy, anoxic brain damage, intraventricular hemorrhage or cerebral infarction. Descriptive statistics are reported, and the Rao‐Scott chi‐square test compared groups.ResultsMAs affected 119 per 100,000 birth visits. Preterm delivery was more frequent for all MA phenotypes. Individuals with MA phenotypes are more likely to require medical attention (airway intervention on DOL 0 or 1 OR no airway intervention received but patient sustained hypoxic complication/mortality): 16.2%–70.7% vs. 3.8%, p < 0.01. Despite receipt of airway interventions at a higher rate, collectively individuals with MAs who received an airway intervention on DOL 0 or 1 have a mildly elevated risk of hypoxic complication or mortality (32.4% vs. 26.4%, p < 0.01).ConclusionsPreterm birth is more common, however, does not account for the elevated rate of airway intervention. Individuals with MAs require higher rates of medical attention, and current airway management paradigms are insufficient to prevent complications and mortality.Level of EvidenceIII Laryngoscope, 2024

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Otocephaly Complex

Cited by 3 publications

References 45 publications

A case of rare isolated agnathia and literature review

A case of rare isolated agnathia and literature review

The Developmental Origin of the Auricula Revisited

Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

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