Kleeblattschaedel syndrome
Kleeblattschaedel syndrome | |
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Other names |
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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
- 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.
- Congenital disorders of musculoskeletal system
- Rare diseases
- Congenital disorders of eye, ear, face and neck