Pashayan syndrome

Other names| Pashayan–Pruzansky Syndrome
This condition is inherited in an autosomal dominant manner[1]

Pashayan syndrome, also known as Pashayan–Pruzansky Syndrome and blepharo-naso-facial syndrome, is a rare syndrome with Mendelian autosomal dominant inheritance with variable expression. An article describing a family with this syndrome was first published in 1973 in The American Journal of Diseases of Children by Drs Hermine Pashayan, Samuel Pruzansky and Allen Putterman from Abraham Lincoln School of Medicine, University of Illinois in Chicago .[2] Facial abnormalities characterise this syndrome as well as malformation of extremities.[3] Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.[4]

A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or "Van Maldergem–Wetzburger–Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome.[5][6][7]

## References

1. ↑ "OMIM Entry - 110050 - BLEPHARONASOFACIAL MALFORMATION SYNDROME" (in en-us). https://omim.org/entry/110050.
2. ↑ Pashayan, Hermine; Pruzansky, S.; Putterman, A. (1973). "A Family with Blepharo-Naso-Facial Malformations". Archives of Pediatrics & Adolescent Medicine 125 (3): 389–393. doi:10.1001/archpedi.1973.04160030057011. PMID 4692594. https://jamanetwork.com/journals/jamapediatrics/article-abstract/504915.
3. ↑ Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J.; Marciniak, Bruno (2006). Bruno Bissonnette. ed. Syndromes: rapid recognition and perioperative management. McGraw-Hill. p. 815. ISBN 978-0-07-135455-4.
4. ↑ Stoll, C; Terzic, J; Fischbach, M (1999). "A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.". Genetic Counseling 10 (4): 337–43. PMID 10631920.
5. ↑ Maldergem, L.; Wetzburger, C.; Verloes, A.; Fourneau, C.; Gillerot, Y. (28 June 2008). "Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?". Clinical Genetics 41 (1): 22–24. doi:10.1111/j.1399-0004.1992.tb03622.x. PMID 1633641.
6. ↑ Zampino, Giuseppe; Colosimo, Cesare; Balducci, Francesca; Mariotti, Paolo; Serra, Fabrizio; Scarano, Gioacchino; Mastroiacovo, Pierpaolo (28 June 2008). "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome". Clinical Genetics 45 (3): 140–144. doi:10.1111/j.1399-0004.1994.tb04011.x. PMID 8026105.
7. ↑ Gastaut, H; Pinsard, N; Gastaut, JL; Régis, H; Michel, B; Roger, J; Dravet, C (November 1977). "[Tomodensitometric study of cerebral accidents causing acute hemiplegia in children]". Revue neurologique 133 (11): 595–607. PMID 601390.

## External links

Classification|

* ICD-10: Q87.0
* OMIM: 110050 Online Mendelian Inheritance in Man (OMIM) 601390
* DiseasesDB: 33647

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External resources|

* Orphanet: 1252

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