- Adolphe Franceschetti
- Allen Thomson
- David Klein
- Edward Treacher Collins
- George Andreas Berry
- Pierre Zwahlen
Mandibulofacial dysostosis evident at birth. Difficulty in sucking and swallowing; excessive mucus in mouth; cyanotic spells. Facial characteristics consist of fishlike facies with antimongoloid obliquity of palpebral fissures, notching of lower eyelids, flattening of molar bones (Treacher Collins), a small mandible, receding chin, considerable overbite, high arched palate, macrostomia, malformations of ears, low-set small ears, prolongation of the hairline on the cheek. Incomplete, abortive, and unilateral forms described. The nasofrontal angle is usually obliterated and the bridge of the nose raised. Mental retardation occurs in some cases. Death from respiratory infection is likely in the first month of life, but survivors of infancy can have a normal life span.
Autosomal dominant inheritance with variable expressivity. Prevalent in Caucasians; but occasionally in all major ethnic groups.
George Andreas Berry in 1889 first described an abortive form with colobomata of the lower eyelids. In 1900 Treacher Collins presented two patients at a meeting of the ophthalmological society, London, and subsequently published an account of their features. Franceschetti and P. Zwahlen in 1944 and Franceschetti and Klein in 1949 published an extensive review of the condition in which they expanded the phenotype, employing the designation "mandibulo-facial dysostosis".
There is some confusion as to the correct eponymic term for this ill-defined group of facial malformations. Treacher Collins’ syndrome is the preferred term in Britain and the U.S.A., while the designation Franceschetti-Klein syndrome has gained general acceptance in Europe. Berry has been given priority here because he was earlier to describe the syndrome as we now define it.
The term Treacher Collins syndrome has also been used as a synonym for Weyers syndrome II, or acrofacial dysostosis. See under Helmut Weyers, German paediatrician and paedontologist, 1920-1986.
See also Nager-de Reynier syndrome, or mandibulofacial dysostosis with limb malformations syndrome, under Felix Robert Nager, Swiss otorhinolaryngologist, 1877-1959.
- A. Thomson:
Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons.
London and Edinburgh Monthly Journal of Medical Science, Edinburgh, 1846-1847, 7: 420.
- G. A. Berry:
Note on a congenital defect (coloboma?) of the lower lid.
Royal London Ophthalmological Hospital Report, 1889, 12: 255-277.
- E. T. Collins:
Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones.
Transactions of the Ophthalmological Societies of the United Kingdom, 1933, 20: 190-192.
- A. Franceschetti, P. Zwahlen
Un syndrome nouveau: la dysostose mandibulo-faciale.
Bulletin de l'Académie Suisse des sciences médicales = Bulletin der schweizerischen Akademie der medizinischen Wissenschaften, 1944, 1: 60-66.
- Pierre Zwahlen:
Un syndrome nouveau: la dysostose mandibulo-faciale. Genève 1944.
Medical thesis, Geneva (Nr. 1826), directed by Franceschetti.
- A. Franceschetti, D. Klein:
The mandibulo-facial dysostosis. A new hereditary syndrome.
Acta Ophthalmologica, Copenhagen, 1949, 27: 143-224.