Kleeblattschaedel: Difference between revisions
Content deleted Content added
No edit summary Tags: Visual edit Mobile edit Mobile web edit Advanced mobile edit |
Citation bot (talk | contribs) Alter: url. URLs might have been anonymized. Add: authors 1-1. Removed parameters. Some additions/deletions were parameter name changes. | Use this bot. Report bugs. | Suggested by AManWithNoPlan | #UCB_webform 898/1844 |
||
| Line 9: | Line 9: | ||
The condition is related to [[thanatophoric dwarfism]] and typical causes death in the prenatal stage.<ref name=":1" /> |
The condition is related to [[thanatophoric dwarfism]] and typical causes death in the prenatal stage.<ref name=":1" /> |
||
The condition is either isolated or associated with other craniofacial dysostosises.<ref name=":2">{{Cite book|last=Kaiser|first=Georges L.|url=https://books.google.com/books?id=JKP2x7b1OJYC& |
The condition is either isolated or associated with other craniofacial dysostosises.<ref name=":2">{{Cite book|last=Kaiser|first=Georges L.|url=https://books.google.com/books?id=JKP2x7b1OJYC&q=Kleeblattschaedel+deformity+syndrome|title=Symptoms and Signs in Pediatric Surgery|date=2012-12-13|publisher=Springer Science & Business Media|isbn=978-3-642-31161-1|pages=79|language=en}}</ref> 85% of children with this condition have other anomalies.<ref>{{Cite book|last1=Swaiman|first1=Kenneth F.|url=https://books.google.com/books?id=PJ9tDgAAQBAJ&q=Kleeblattschaedel+syndrome&pg=SL5-PA582|title=Swaiman's Pediatric Neurology E-Book: Principles and Practice|last2=Ashwal|first2=Stephen M.|last3=Ferriero|first3=Donna M.|last4=Schor|first4=Nina F.|last5=Finkel|first5=Richard S.|last6=Gropman|first6=Andrea L.|last7=Pearl|first7=Phillip L.|last8=Shevell|first8=Michael|date=2017-09-21|publisher=Elsevier Health Sciences|isbn=978-0-323-37481-1|pages=e582|language=en}}</ref> Severe forms of the condition are often a sign of syndromic craniosynostosis combined with a grotesque constriction ring of the [[Lambdoid suture|lambdoid structure]] and the [[squamosal bone]] or in another area.<ref name=":2" /> |
||
== Name and etymology == |
== Name and etymology == |
||
| Line 18: | Line 18: | ||
== Causes == |
== 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]].<ref>{{Cite book| |
There is no known genetic [[etiology]] for the condition but has been associated with other conditions like [[Crouzon syndrome]], [[Pfeiffer syndrome]], and [[Carpenter syndrome]].<ref>{{Cite book|last1=Dalben|first1=Gisele da Silva|url=https://books.google.com/books?id=LYA0DwAAQBAJ&dq=cloverleaf+skull+syndrome+reported+cases&pg=PA100|title=Craniofacial Disorders - Orofacial Features and Peculiarities in Dental Treatment|last2=Gomide|first2=Marcia Ribeiro|date=2017-08-07|publisher=Bentham Science Publishers|isbn=978-1-68108-516-6|pages=100|language=en}}</ref> |
||
The condition is caused by a premature fusing of the fibrous sutures.<ref>{{Cite web|title=Craniofacial Abnormalities|url=https://www.hopkinsmedicine.org/health/conditions-and-diseases/craniofacial-abnormalities|access-date=2021-10-02|website=www.hopkinsmedicine.org|language=en}}</ref> The condition is also caused by absence of the coronal and lambdoid sutures.<ref name=":1">{{Cite book|last=Lewis|first=Mary|url=https://books.google.com/books?id=ugPeDAAAQBAJ& |
The condition is caused by a premature fusing of the fibrous sutures.<ref>{{Cite web|title=Craniofacial Abnormalities|url=https://www.hopkinsmedicine.org/health/conditions-and-diseases/craniofacial-abnormalities|access-date=2021-10-02|website=www.hopkinsmedicine.org|language=en}}</ref> The condition is also caused by absence of the coronal and lambdoid sutures.<ref name=":1">{{Cite book|last=Lewis|first=Mary|url=https://books.google.com/books?id=ugPeDAAAQBAJ&q=cloverleaf+skull+syndrome|title=Paleopathology of Children: Identification of Pathological Conditions in the Human Skeletal Remains of Non-Adults|date=2017-07-26|publisher=Academic Press|isbn=978-0-12-410439-6|page=25|language=en}}</ref> |
||
== Epidemiology == |
== Epidemiology == |
||
The condition occurs equally in both males as in females.<ref>{{Cite book| |
The condition occurs equally in both males as in females.<ref>{{Cite book|last1=Ketonen|first1=L. M.|url=https://books.google.com/books?id=5e-qyO7iC_MC&dq=cloverleaf+skull+syndrome+reported+cases&pg=PA65|title=Pediatric Brain and Spine: An Atlas of MRI and Spectroscopy|last2=Hiwatashi|first2=A.|last3=Sidhu|first3=R.|last4=Westesson|first4=P.-L.|date=2005-12-05|publisher=Springer Science & Business Media|isbn=978-3-540-26436-1|pages=64|language=en}}</ref> |
||
== Symptoms == |
== Symptoms == |
||
Revision as of 18:17, 21 December 2021
| Kleeblattschaedel syndrome | |
|---|---|
| Other names |
|
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". 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.
- ^ 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.
- ^ a b 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.
- ^ a b Kaiser, Georges L. (2012-12-13). Symptoms and Signs in Pediatric Surgery. Springer Science & Business Media. p. 79. ISBN 978-3-642-31161-1.
- ^ 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.
- ^ Weaver, David D.; Brandt, Ira K. (1999). Catalog of Prenatally Diagnosed Conditions. JHU Press. p. 151. ISBN 978-0-8018-6044-7.
- ^ a b 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.
- ^ Dalben, Gisele da Silva; Gomide, Marcia Ribeiro (2017-08-07). Craniofacial Disorders - Orofacial Features and Peculiarities in Dental Treatment. Bentham Science Publishers. p. 100. ISBN 978-1-68108-516-6.
- ^ "Craniofacial Abnormalities". www.hopkinsmedicine.org. Retrieved 2021-10-02.
- ^ 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.
- ^ "Kleeblattschaedel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-20.