Pashayan syndrome

Pashayan syndrome
Classification and external resources
OMIM	110050 601390
DiseasesDB	33647

Pashayan syndrome also known as Pashayan-Prozansky Syndrome, and Blepharo-Naso-Facial syndrome is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities.^[1] Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.^[2]

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.^[3][4][5]

References

1. ^ Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J.; Marciniak, Bruno (2006). Syndromes: rapid recognition and perioperative management. McGraw-Hill. ISBN 978-0-07-135455-4. ^{[page needed]}
2. ^ Stoll (1999). "A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome". Genetic counseling (Geneva, Switzerland) 10 (4): 337–43. PMID 10631920. 
3. ^ Van Maldergem (1992). "Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?". Clinical genetics 41 (1): 22–4. PMID 1633641. 
4. ^ Zampino (1994). "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome". Clinical genetics 45 (3): 140–4. PMID 8026105. 
5. ^ Gastaut (1977). "Tomodensitometric study of cerebral accidents causing acute hemiplegia in children". Revue neurologique 133 (11): 595–607. PMID 601390.