Kleeblattschaedel

Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face.[2] This condition is a severe type of craniosynostosis.[3]

Kleeblattschaedel
Other namesCloverleaf skull, kleeblattschädel, isolated cloverleaf skull syndrome[1]
1-day-old male infant with kleeblattschaedel
ComplicationsHydrocephalus, intellectual disability
Kleeblattschaedel in Carpenter syndrome
Kleeblattschaedel showing extreme upper head protrusion

The condition can be both isolated or associated with other craniofacial dysostosises.[4] 85% of children with this condition have other anomalies.[5] Severe forms of the condition are often a sign of syndromic craniosynostosis combined with a grotesque constriction ring of the lambdoid structure and the squamosal bone or in another area.[4]

Name and etymology

Kleeblattschaedel (kleeblattschädel) is German for "cloverleaf skull".[6] The disorder was named Kleeblattschaedel syndrome in 1958.[7]

History

The first case reported was back in 1849. The condition was first identified in 1960, and the first case in the United States was reported in 1965.[8]

Causes

The condition is caused by a premature fusing of the fibrous sutures.[9] The condition is also caused by absence of the coronal and lambdoid sutures.[10]

There is no known genetic etiology for the condition but it is usually seen in:[11]

Epidemiology

The condition occurs equally in both males as in females.[13]

References
  1. "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-03.
  2. Lindsey, Mary P. (2002-03-11). Dictionary of Mental Handicap. Routledge. p. 181. ISBN 978-1-134-97199-2.
  3. 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.
  4. Kaiser, Georges L. (2012-12-13). Symptoms and Signs in Pediatric Surgery. Springer Science & Business Media. p. 79. ISBN 978-3-642-31161-1.
  5. 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.
  6. Weaver, David D.; Brandt, Ira K. (1999). Catalog of Prenatally Diagnosed Conditions. JHU Press. p. 151. ISBN 978-0-8018-6044-7.
  7. Radswiki, The. "Cloverleaf skull (craniosynostosis) | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2023-01-28.
  8. 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.
  9. "Craniofacial Abnormalities". www.hopkinsmedicine.org. Retrieved 2021-10-02.
  10. Lewis, Mary (2017-07-26). Paleopathology of Children: Identification of Pathological Conditions in the Human Skeletal Remains of Non-Adults. Academic Press. p. 25. ISBN 978-0-12-410439-6.
  11. Radswiki, The. "Cloverleaf skull (craniosynostosis) | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2023-01-28.
  12. Philadelphia, The Children's Hospital of (2014-09-18). "Pfeiffer Syndrome". www.chop.edu. Retrieved 2023-01-28.
  13. Ketonen, L. M.; Hiwatashi, A.; Sidhu, R.; Westesson, P.-L. (2005-12-05). Pediatric Brain and Spine: An Atlas of MRI and Spectroscopy. Springer Science & Business Media. p. 64. ISBN 978-3-540-26436-1.
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