A disorder marked by extreme craniosynostosis involving both coronal and sagittal sutures, and bilateral fibular aplasia.
A disorder marked by extreme craniosynostosis involving both coronal and sagittal sutures, and bilateral fibular aplasia. Long list of features. Autosomal recessive inheritance is suspected. Lowry in 1972 defined the disease picture based on observations of two brothers of consanguinous parents.
- R. B. Lowry:
Congenital absence of the fibula and craniosynostosis in sibs.
Journal of Medical Genetics, London, 1972, 9: 227-229.
- R. B. Lowry:
Absent fibula and craniosynostosis: a 25 year follow up. (Letter).
Journal of Medical Genetics, 1993, 30: 445-446.
What is an eponym?
An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus
any word related to medicine, whose name is derived from a person.
What is Whonamedit?
Whonamedit.com is a biographical dictionary of medical eponyms.
It is our ambition to present a complete survey of all medical phenomena named for a person,
with a biography of that person.
Whonamedit? 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.