Medicine:Kleeblattschaedel syndrome
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Kleeblattschaedel syndrome is a rare malformation of the head where there is a protrusion of the skull and broadening of the face.[2] The condition is a serve type of Craniosynostosis.[3]
The condition is related to thanatophoric dwarfism and typical causes death in the prenatal stage.[4]
The condition is either isolated or associated with other craniofacial dysostosises.[5] 85% of children with this condition have other anomalies.[6] 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.[5]
Name and etymology
Kleeblattschaedel is German for cloverleaf skull.[7] The disorder got the name Kleeblattschaedel syndrome in the year 1960.[8]
History
The first case reported was back in 1849. The first case in the United States was reported in 1965.[8]
Causes
There is no known genetic etiology for the condition but has been associated with other conditions like Crouzon syndrome, Pfeiffer syndrome, and Carpenter syndrome.[9]
The condition is caused by a premature fusing of the fibrous sutures.[10] The condition is also caused by absence of the coronal and lambdoid sutures.[4]
Epidemiology
The condition occurs equally in both males as in females.[11]
Symptoms
Symptoms include.[12]
- Sporadic
- Recurrent corneal erosions
- Proptosis
- Hydrocephalus
- Elbow ankylosis
- Craniosynostosis
- Cloverleaf skull
- Autosomal dominant inheritance
References
- ↑ "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome.
- ↑ Lindsey, Mary P. (2002-03-11) (in en). Dictionary of Mental Handicap. Routledge. pp. 181. ISBN 978-1-134-97199-2. https://books.google.com/books?id=KGuIAgAAQBAJ&q=Cloverleaf+skull+syndrome+dictionary&pg=PA181.
- ↑ Wynbrandt, James; Ludman, Mark D. (2010-05-12) (in en). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. pp. 229–230. ISBN 978-1-4381-2095-9. https://books.google.com/books?id=kXaMjwItP0oC&q=Kleeblattschaedel+syndrome&pg=PA229.
- ↑ 4.0 4.1 Lewis, Mary (2017-07-26) (in en). 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. https://books.google.com/books?id=ugPeDAAAQBAJ&q=cloverleaf+skull+syndrome.
- ↑ 5.0 5.1 Kaiser, Georges L. (2012-12-13) (in en). Symptoms and Signs in Pediatric Surgery. Springer Science & Business Media. pp. 79. ISBN 978-3-642-31161-1. https://books.google.com/books?id=JKP2x7b1OJYC&q=Kleeblattschaedel+deformity+syndrome.
- ↑ 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) (in en). Swaiman's Pediatric Neurology E-Book: Principles and Practice. Elsevier Health Sciences. pp. e582. ISBN 978-0-323-37481-1. https://books.google.com/books?id=PJ9tDgAAQBAJ&q=Kleeblattschaedel+syndrome&pg=SL5-PA582.
- ↑ Weaver, David D.; Brandt, Ira K. (1999) (in en). Catalog of Prenatally Diagnosed Conditions. JHU Press. pp. 151. ISBN 978-0-8018-6044-7. https://books.google.com/books?id=m2Mx9KyY-igC&q=Kleeblattschaedel+syndrome&pg=PA151.
- ↑ 8.0 8.1 Quinones-Hinojosa, Alfredo (2021-04-22) (in en). Schmidek and Sweet: Operative Neurosurgical Techniques E-Book: Indications, Methods and Results. Elsevier Health Sciences. pp. 953. ISBN 978-0-323-41519-4. https://books.google.com/books?id=2MsqEAAAQBAJ&q=Kleeblattsch%C3%A4del&pg=PA953.
- ↑ Dalben, Gisele da Silva; Gomide, Marcia Ribeiro (2017-08-07) (in en). Craniofacial Disorders - Orofacial Features and Peculiarities in Dental Treatment. Bentham Science Publishers. pp. 100. ISBN 978-1-68108-516-6. https://books.google.com/books?id=LYA0DwAAQBAJ&dq=cloverleaf+skull+syndrome+reported+cases&pg=PA100.
- ↑ "Craniofacial Abnormalities" (in en). https://www.hopkinsmedicine.org/health/conditions-and-diseases/craniofacial-abnormalities.
- ↑ Ketonen, L. M.; Hiwatashi, A.; Sidhu, R.; Westesson, P.-L. (2005-12-05) (in en). Pediatric Brain and Spine: An Atlas of MRI and Spectroscopy. Springer Science & Business Media. pp. 64. ISBN 978-3-540-26436-1. https://books.google.com/books?id=5e-qyO7iC_MC&dq=cloverleaf+skull+syndrome+reported+cases&pg=PA65.
- ↑ "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome.
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