Laryngeal atresia

Classification according to ICD-10
Q31.8	Other congenital malformations of the larynx - atresia
ICD-10 online (WHO version 2019)

Laryngeal atresia (larynx atresia ) describes a total closure ( atresia ) of the larynx , which, if left untreated, in most cases ends fatally during pregnancy . This is the rarest and most severe form of laryngeal malformation.

The cause lies in a lack of recanalization of the laryngotracheal tube, the 6th gill arch during the 3rd month of pregnancy .

The autosomal dominant hereditary partial laryngeal atresia, which is much more frequent with 1 in 10,000 births, must be distinguished .

Classification

The following classification was proposed by II Smith and AD Bain in 1965:

Type 1 , complete atresia with fusion of the cartilage and its muscles

Type 2 , obstruction below the glottis by a dome-shaped cricoid cartilage closing the lumen

Type 3 , closure of the thyroid cartilage with fusion with the anterior cartilage at the level of the vocal folds

Occurrence

Among other things, atresia of the larynx is responsible for the fetal CHAOS syndrome ( C ongenital H igh A irway O bstruction S yndrome), can be distinguished in three forms:

complete laryngeal atresia without tracheo-oesophageal fistula
complete laryngeal atresia with tracheo-oesophageal fistula
almost complete upper airway obstruction

There is an association with:

In the context of syndromes

In some syndromes , laryngeal atresia is one of the main signs:

Agnathia-Otocephaly Complex
Braddock Syndrome
CODAS syndrome
Fraser Syndrome
Goltz-Gorlin syndrome
Hypertelorism-Hypospadias Syndrome
Cat Scream Syndrome
Laryngeal atresia-encephalocele-limb malformations
Oro-facio-digital syndrome type 4
Pallister Hall Syndrome
Shprintzen-Goldberg Syndrome
Syndromic microphthalmia type 3
Ulnar mammary syndrome
VACTERL association
X-linked - recessive VACTERL association

Clinical manifestations

Pronounced effusion in the lungs and ascites are observed in the unborn child . The occlusion prevents the accumulated fluid from flowing back and causes the lungs to enlarge unnaturally, preventing and displacing the heart from further growth .

Diagnosis

Detection is possible prenatally using ultrasound .

treatment

A tracheotomy is unavoidable with a laryngeal atresia . Sometimes fetal surgery is performed.

literature

P. Fayoux, L. Devisme: Histoanatomical structures of laryngeal atresia: Functional considerations. In: The Laryngoscope. [Electronic publication before printing] February 2019, doi: 10.1002 / lary.27855 , PMID 30734293 .
WM Gatti, E. MacDonald, E. Orfei: Congenital laryngeal atresia. In: The Laryngoscope. Volume 97, Number 8 Pt 1, August 1987, pp. 966-969, PMID 3613798 .

Individual evidence

↑ ^a ^b emedicine
↑ Larynx atresia. In: Orphanet (Rare Disease Database).
↑ LARYNX, CONGENITAL PARTIAL atresia OF. In: Online Mendelian Inheritance in Man . (English)
^ II Smith, AD Bain: Congenital Atresia Of The Larynx. A Report Of Nine Cases. In: The Annals of Otology, Rhinology, and Laryngology. Volume 74, June 1965, pp. 338-349, doi: 10.1177 / 000348946507400205 , PMID 14325849 .
↑ ^a ^b C. J. Hartnick, M. Rutter, F. Lang, JP Willging, RT Cotton: Congenital high airway obstruction syndrome and airway reconstruction: an evolving paradigm. In: Archives of Otolaryngology - Head & Neck Surgery. Volume 128, Number 5, May 2002, pp. 567-570, PMID 12003589 .
^ ^A ^b M.K. Garg: Case report: Antenatal diagnosis of congenital high airway obstruction syndrome - laryngeal atresia. In: The Indian journal of radiology & imaging. Volume 18, number 4, November 2008, pp. 350-351, doi: 10.4103 / 0971-3026.43843 , PMID 19774196 , PMC 2747465 (free full text).
↑ Chromosome 5p deletion, partial. In: Orphanet (Rare Disease Database).
↑ AGNATHIA-OTOCEPHALY COMPLEX. In: Online Mendelian Inheritance in Man . (English)
^ Braddock syndrome. In: Orphanet (Rare Disease Database).
↑ CODAS SYNDROME laryngeal atresia. In: Online Mendelian Inheritance in Man . (English)
↑ laryngeal atresia, encephalocele, AND LIMB deformities Larynxatresie. In: Online Mendelian Inheritance in Man . (English)
↑ ULNAR-MAMMARY SYNDROME Laryngeal atresia. In: Online Mendelian Inheritance in Man . (English)
↑ P. Chaemsaithong, T. Chansoon, B. Chanrachakul, S. Worawichawong, S. Wongwaisayawan, P. Promsonthi: Prenatal diagnosis and pathology of laryngeal atresia in congenital high airway obstruction syndrome. In: Case reports in radiology. Volume 2012, 2012, p. 616905, doi: 10.1155 / 2012/616905 , PMID 23424705 , PMC 3566610 (free full text).

[emed-1] ↑ ^a ^b emedicine

[2] Larynx atresia. In: Orphanet (Rare Disease Database).

[3] LARYNX, CONGENITAL PARTIAL atresia OF. In: Online Mendelian Inheritance in Man . (English)

[4] II Smith, AD Bain: Congenital Atresia Of The Larynx. A Report Of Nine Cases. In: The Annals of Otology, Rhinology, and Laryngology. Volume 74, June 1965, pp. 338-349, doi: 10.1177 / 000348946507400205 , PMID 14325849 .

[Hartnick-5] C. J. Hartnick, M. Rutter, F. Lang, JP Willging, RT Cotton: Congenital high airway obstruction syndrome and airway reconstruction: an evolving paradigm. In: Archives of Otolaryngology - Head & Neck Surgery. Volume 128, Number 5, May 2002, pp. 567-570, PMID 12003589 .

[Garg-6] A ^b M.K. Garg: Case report: Antenatal diagnosis of congenital high airway obstruction syndrome - laryngeal atresia. In: The Indian journal of radiology & imaging. Volume 18, number 4, November 2008, pp. 350-351, doi: 10.4103 / 0971-3026.43843 , PMID 19774196 , PMC 2747465 (free full text).

[7] Chromosome 5p deletion, partial. In: Orphanet (Rare Disease Database).

[8] AGNATHIA-OTOCEPHALY COMPLEX. In: Online Mendelian Inheritance in Man . (English)

[9] Braddock syndrome. In: Orphanet (Rare Disease Database).

[10] CODAS SYNDROME laryngeal atresia. In: Online Mendelian Inheritance in Man . (English)

[11] ryngeal atresia, encephalocele, AND LIMB deformities Larynxatresie. In: Online Mendelian Inheritance in Man . (English)

[12] ULNAR-MAMMARY SYNDROME Laryngeal atresia. In: Online Mendelian Inheritance in Man . (English)

[hindawi-13] P. Chaemsaithong, T. Chansoon, B. Chanrachakul, S. Worawichawong, S. Wongwaisayawan, P. Promsonthi: Prenatal diagnosis and pathology of laryngeal atresia in congenital high airway obstruction syndrome. In: Case reports in radiology. Volume 2012, 2012, p. 616905, doi: 10.1155 / 2012/616905 , PMID 23424705 , PMC 3566610 (free full text).