Literature DB >> 3591835

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

G S Pai, A H Levkoff, R E Leithiser.   

Abstract

An unusual combination of three rare developmental anomalies, ie, complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system, was discovered in a male newborn. Inguinal hernia, cryptorchidism, and clinodactyly of the fifth fingers were other features. His mother was found to have clinodactyly, antimongoloid slant to her palpebral fissures, and computed tomography (CT) scan evidence of asymptomatic hydrocephaly. Family history and clinical investigations did not reveal any clues to etiology. This combination of findings may represent a new syndrome or another expression of frontonasal dysplasia.

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Year:  1987        PMID: 3591835     DOI: 10.1002/ajmg.1320260421

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  14 in total

1.  Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Authors:  Elif Uz; Yasemin Alanay; Dilek Aktas; Ibrahim Vargel; Safak Gucer; Gokhan Tuncbilek; Ferdinand von Eggeling; Engin Yilmaz; Ozgur Deren; Nicole Posorski; Hilal Ozdag; Thomas Liehr; Sevim Balci; Mehmet Alikasifoglu; Bernd Wollnik; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2010-05-06       Impact factor: 11.025

2.  Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.

Authors:  Tomas Dobrocky; Lukas Ebner; Benjamin Liniger; Christian Weisstanner; Enno Stranzinger
Journal:  Pediatr Radiol       Date:  2014-10-31

Review 3.  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

4.  A further patient with Pai syndrome with autosomal dominant inheritance?

Authors:  S Rudnik-Schöneborn; K Zerres
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

5.  Cancer risk in persons with oral cleft--a population-based study of 8,093 cases.

Authors:  Camilla Bille; Jeanette Falck Winther; Andrea Bautz; Jeffrey C Murray; Jørn Olsen; Kaare Christensen
Journal:  Am J Epidemiol       Date:  2005-06-01       Impact factor: 4.897

6.  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

7.  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

8.  Pai syndrome: challenging prenatal diagnosis and management.

Authors:  Marie Blouet; Frédérique Belloy; Corinne Jeanne-Pasquier; Nathalie Leporrier; Guillaume Benoist
Journal:  Pediatr Radiol       Date:  2014-04-20

9.  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

10.  Pai syndrome: From the womb until 19 months of age, a neurological development success story.

Authors:  Hala Hassan; Daniella L Buzas; Anne Bazin; Noëlle Stempfle; Agnès Guët; Christophe Poncelet; Cergika Veluppillai
Journal:  Clin Case Rep       Date:  2021-07-21
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