Pashayan syndrome

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]

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

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". omim.org. Retrieved 4 August 2017.
  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.
  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. S2CID 10817955.
  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. S2CID 28105985.
  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.
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