Kleeblattschaedel syndrome
| Kleeblattschaedel syndrome | |
|---|---|
| Synonym |
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| Classification and external resources | |
| Specialty | {{#statements:P1995}} |
| Patient UK | Kleeblattschaedel syndrome |
Kleeblattschaedel syndrome is a rare malformation of the head where there is a protrusion of the skull and broadening of the face.[2]
It is also a serve type of Craniosynostosis.[3]
85% of children with this condition have other anomalies.[4]
Name and etymology[edit]
Kleeblattschaedel is German for cloverleaf skull.[5] The disorder got the name Kleeblattschaedel syndrome in the year 1960.[6]
History[edit]
The first case reported was back in 1849. The first case in the United States was reported in 1965.[6]
Symptoms[edit]
Symptoms include.[7]
- Sporadic
- Recurrent corneal erosions
- Proptosis
- Hydrocephalus
- Elbow ankylosis
- Craniosynostosis
- Cloverleaf skull
- Autosomal dominantinheritance
References[edit]
- ↑ "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-03.
- ↑ Lindsey, Mary P. (2002-03-11). Dictionary of Mental Handicap. Routledge. p. 181. ISBN 978-1-134-97199-2. Search this book on
- ↑ Wynbrandt, James; Ludman, Mark D. (2010-05-12). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. pp. 229–230. ISBN 978-1-4381-2095-9. Search this book on
- ↑ Swaiman, Kenneth F.; Ashwal, Stephen M.; Ferriero, Donna M.; Schor, Nina F.; Finkel, Richard S.; Gropman, Andrea L.; Pearl, Phillip L.; Shevell, Michael (2017-09-21). Swaiman's Pediatric Neurology E-Book: Principles and Practice. Elsevier Health Sciences. pp. e582. ISBN 978-0-323-37481-1. Search this book on
- ↑ Weaver, David D.; Brandt, Ira K. (1999). Catalog of Prenatally Diagnosed Conditions. JHU Press. p. 151. ISBN 978-0-8018-6044-7. Search this book on
- ↑ 6.0 6.1 Quinones-Hinojosa, Alfredo (2021-04-22). Schmidek and Sweet: Operative Neurosurgical Techniques E-Book: Indications, Methods and Results. Elsevier Health Sciences. p. 953. ISBN 978-0-323-41519-4. Search this book on
- ↑ "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-20.
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