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). Bruno Bissonnette, ed. Syndromes: rapid recognition and perioperative management. McGraw-Hill. ISBN 978-0-07-135455-4.
  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. |first2= missing |last2= in Authors list (help); |first3= missing |last3= in Authors list (help)
  3. ↑ Van Maldergem (1992). "Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?". Clinical genetics. 41 (1): 22–4. doi:10.1111/j.1399-0004.1992.tb03622.x. PMID 1633641. |first2= missing |last2= in Authors list (help); |first3= missing |last3= in Authors list (help); |first4= missing |last4= in Authors list (help); |first5= missing |last5= in Authors list (help)
  4. ↑ Zampino (1994). "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome". Clinical genetics. 45 (3): 140–4. doi:10.1111/j.1399-0004.1994.tb04011.x. PMID 8026105. |first2= missing |last2= in Authors list (help); |first3= missing |last3= in Authors list (help); |first4= missing |last4= in Authors list (help); |first5= missing |last5= in Authors list (help); |first6= missing |last6= in Authors list (help); |first7= missing |last7= in Authors list (help)
  5. ↑ Gastaut (1977). "Tomodensitometric study of cerebral accidents causing acute hemiplegia in children". Revue neurologique. 133 (11): 595–607. PMID 601390. |first2= missing |last2= in Authors list (help); |first3= missing |last3= in Authors list (help); |first4= missing |last4= in Authors list (help); |first5= missing |last5= in Authors list (help); |first6= missing |last6= in Authors list (help); |first7= missing |last7= in Authors list (help)


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