|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Wildervanck's syndrome I
Also known as:
Franceschetti-Klein-Wildervanck syndrome
Wildervanck-Waardenburg-Franceschetti-Klein syndrome
Associated persons:
Adolphe Franceschetti
David Klein
Petrus Johannes Waardenburg
L. S. Wildervanck
Description:
A syndrome combining fused cervical vertebrae with torticollis (Klippel-Feil syndrome) and abducens palsy with retractio bulbi (Stilling-Türk-Duane syndrome), and congenital perceptive deafness. Associated defects may include cleft palate, dental anomalies, epibulbar epidermoids, epileptic attacks, facial hypoplasia, facial and cranial asymmetry, preauricular tags, subconjunctival lipoma, micrognathia, narrow palate, mental retardation, nystagmus, and heterochromia iridis.
The Wildervanck syndrome affects almost exclusively women. It is present from birth in approximately 1% of all female deaf mutes.
Bibliography:
- L. S. Wildervanck:
Een geval vanaandoening val Klippel-Feil, gecombineerd med abducensparalyse, retractio bulbi en doofstomheid.
(Kippel-Feil syndrome associated with abducens paralysis, bulbar retraction and deaf-mutism)
Nederlandsch tijdschrift voor geneeskunde, Amsterdam, 1952, 96: 2751-3122.
Een cervico-oculo-acusticus-syndroom.
Nederlandsch tijdschrift voor geneeskunde, Amsterdam, 1960, 104: 2600-2605.
- P. J. Waardenburg:
Über Retractio bulbi mit Begeleiterscheinungen.
Albrecht von Graefes Archiv für Ophthalmologie, Berlin, 1953, 154: 96-109.
- A. Franceschetti, D. Klein:
Dysmorphie cervico-oculo-faciale avec surdité familiale (Klippel-Feil, retractio bulbi, asymetrie cranio-faciale et autres anomalies congenitales.
Journal de génétique humaine, Geneva, 1954, 3: 176-183.
|
|
|
