The pathogenesis of the first and second branchial arch syndrome

doi:10.1016/0030-4220(73)90070-4

Oral Surgery, Oral Medicine, Oral Pathology

Volume 35, Issue 3, March 1973, Pages 302-328

Oral Surgery, Oral M...

https://doi.org/10.1016/0030-4220(73)90070-4 Get rights and content

Abstract

Malformations of the first and second branchial arches have been recorded for centuries; the incidence of the characteristic syndrome was about 1 per 4,000 births until the thalidomide disaster, which led to an epidemic of otomandibular defects, often in association with limb deformities. A puzzling feature of the first arch syndrome has been the variable expression of the defects and the invariable involvement of the derivatives of the primordia of the temporal bone, not itself a product of the embryologic first or second arch. Experiments are reported in which a phenocopy of the first and second arch syndrome has been produced; the sequential development of the anomalies has been studied to reveal the causal mechanism of malformation. The pathogenesis of the syndrome has been described in the mouse following the administration of triazene, and in the monkey after maternal ingestion of thalidomide. It is proposed that the causal mechanism is one of embryonic hematoma formation, the hemorrhage arising from the anastomosis which precedes the formation of the stapedial arterial stem. The variable expression of the human syndrome is described and related to the variations in form and duration of the hematoma as seen in the animal models.

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^☆

This work was supported by a grant from the National Fund for Research Into Crippling Diseases.

Presented at a meeting of the Royal Society of Medicine, London, March 27, 1972.

View full text

The pathogenesis of the first and second branchial arch syndrome☆

Abstract

Br. J. Plast. Surg

Lancet

The Teratological Records of Chaldea

Teratologica

A Description of Congenital Malformation of the Auricle and External Meatus of Both Sides in Three Persons

Three Demonstrations of Congenital Malformations of Palate, Face and Neck

Br. Med. J

Heredity in Ophthalmology

Malformations of the Face

The First Branchial Syndrome; the Oro-Mandibular-Auricular Syndrome

Plast. Reconstr. Surg

The Face in Genetic Disorders

The First and Second Branchial Arch Syndrome

Plast. Reconstr. Surg

Die Ohrm Bildungen in Rahmen de Thalidomide-embryopathie

Z. Laryngol. Rhinol. Otol

Congenital Ear Abnormalities Due to Thalidomide

The First Arch Syndrome

Arch. Dis. Child

External and Middle Ear Malformations Associated With Mandibulo-facial Dysostosis and Renal Abnormalities: A Case Report

Ann. Otol. Rhinol. Laryngol

Teratology of the Central Nervous System

Congenital Atresia of the Ear in Man and Animals

Ann. Otol. Rhinol. Laryngol

Comparison of Teratogenic Chemicals in the Rat and Chick Embryos

Pediatrics