Literature DB >> 8071979

A further patient with Pai syndrome with autosomal dominant inheritance?

S Rudnik-Schöneborn1, K Zerres.   

Abstract

We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.

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Year:  1994        PMID: 8071979      PMCID: PMC1049932          DOI: 10.1136/jmg.31.6.497

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Median cleft of the upper lip.

Authors:  L K Sharma
Journal:  Plast Reconstr Surg       Date:  1974-02       Impact factor: 4.730

2.  True median cleft of the upper lip associated with three pedunculated club-shaped skin masses.

Authors:  J Nakamura; H Tomonari; S Goto
Journal:  Plast Reconstr Surg       Date:  1985-05       Impact factor: 4.730

3.  Median clefting of the upper lip associated with cutaneous polyps.

Authors:  W Reardon; B Jones; M Baraitser
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

4.  Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps.

Authors:  G S Pai; A H Levkoff; R E Leithiser
Journal:  Am J Med Genet       Date:  1987-04

5.  Midline cleft lip with associated abnormalities.

Authors:  R D Ponniah
Journal:  J Laryngol Otol       Date:  1977-02       Impact factor: 1.469

  5 in total
  7 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

Review 2.  Pai syndrome: first reported case in Qatar and review of literature of previously published cases.

Authors:  Mohamed Abdelmaaboud; Nuha Nimeri
Journal:  BMJ Case Rep       Date:  2012-08-21

3.  Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

Authors:  M Masuno; K Imaizumi; Y Fukushima; Y Tanaka; T Ishii; M Nakamura; Y Kuroki
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

4.  Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.

Authors:  S Savasta; S Chiapedi; S Perrini; E Tognato; L Corsano; A Chiara
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475

5.  Lipoma of Columella with septal extension in Pai syndrome: report of a rare case.

Authors:  Surendra B Patil; Shree Harsh
Journal:  BMC Ear Nose Throat Disord       Date:  2017-02-06

Review 6.  Pai syndrome: a review.

Authors:  Francesca Olivero; Thomas Foiadelli; Sabino Luzzi; Gian Luigi Marseglia; Salvatore Savasta
Journal:  Childs Nerv Syst       Date:  2020-07-10       Impact factor: 1.475

7.  A case of lipoma, calcification, and brain malformations in the midline of the skull.

Authors:  Hideto Kanazawa; Kenji Gonda; Takamitsu Tamura; Seiichi Takenoshita
Journal:  Radiol Case Rep       Date:  2021-07-03
  7 in total

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