Complete Mandibular Agenesis: Report of a Case

Brecht, Kathryn; Johnson, Charles M.

doi:10.1001/archotol.1985.00800040096015

Cited by 31 publications

(14 citation statements)

References 3 publications

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“…Only 17 cases of non-syndromal dysgnathia have been published since 1961 [Bixler et al, 1985;Black et al, 1973;Brecht and Johnson, 1985;Hinojosa et al, 1996;Johnson and Cook, 1961;Kamiji et al, 1991;Lawrence and Bersu, 1982;Leckie, 1975;Le Marec et al, 1976;Libersa and Heritier, 1974;Scholl, 1977;Shermak and Dufresne, 1996;Ursell, 1972;Van de Sande, 1966;Woon and Tan, 1979], and only two previous cases of isolated dysgnathia have survived infancy [Kamiji et al, 1991;Shermak and Dufresne, 1996]. Dysgnathia in association with holoprosencephaly, situs inversus, and other anomalies has been reported more frequently [Ades and Sillence, 1992;Carles et al, 1987;Gaba et al, 1981;Machin et al, 1985;Pauli et al, 1983;Porteous et al, 1992;Rolland et al, 1991;Hersh et al, 1989;Pauli et al, 1981;Leech et al, 1988;Meinecke et al, 1990;Persutte et al, 1990;Brown and Marsh, 1990;Dao et al, 1988;LeMaitre et al, 1982;Peiffer et al, 1992;Walker et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Transmission of the dysgnathia complex from mother to daughter

2000

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We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.

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Section: Introductionmentioning

confidence: 99%

Transmission of the dysgnathia complex from mother to daughter

2000

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“…There have, however, been a small number of reports of longer survival (11 months, 3 years and 5 years) for gastrostomized and tracheostomized infants [11][12][13] . The EXIT procedure (ex utero intrapartum treatment) has been performed in a case of agnathia-otocephaly to improve prognosis.…”

Section: Discussionmentioning

confidence: 99%

Take a Look at the CHIN! – Early Diagnosis of Isolated Agnathia Using Two- and Three-Dimensional Sonography

Huissoud¹,

Jumel²,

Bisch³

et al. 2008

Fetal Diagn Ther

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Agnathia is a very rare malformation characterized by the absence of the mandible, which occurs either as an isolated malformation or in association with other deformities. We report the first case of an isolated agnathia diagnosed at 12 weeks due to the absence of the chin; the case was diagnosed using two- and three-dimensional ultrasonography and was confirmed by pathological analysis after the pregnancy was medically terminated at 17 weeks. Usually, isolated agnathia is a lethal malformation and its prenatal diagnosis is often delayed beyond the second trimester of pregnancy. We therefore suggest a systematic ‘look at the CHIN’, i.e. Chin, Headbone outlines (skull and nasal bones), Inner head, Nuchal translucency, using the sagittal view of the cephalic pole at 12 weeks.

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“…3'4 The rare congenital causes of microstomia in children include the whistling face syndrome 5 and complete mandibular agenesis. 6 In paediatric microstomia, airflow in the upper respiratory tract is not compromised. Nasopharyngeal airflow patterns will even permit unobstructed nasal ventilation by mask but often prohibit blind nasotracheal intubation due to anatomical distortion, as in the case reported.…”

Section: Discussionmentioning

confidence: 99%

Perioperative management of paediatric microstomia

1991

Can J Anaesth

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Complete Mandibular Agenesis: Report of a Case

Cited by 31 publications

References 3 publications

Transmission of the dysgnathia complex from mother to daughter

Transmission of the dysgnathia complex from mother to daughter

Take a Look at the CHIN! – Early Diagnosis of Isolated Agnathia Using Two- and Three-Dimensional Sonography

Perioperative management of paediatric microstomia

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