Literature DB >> 5551881

Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes.

J T Martsolf, J B Cracco, G G Carpenter, A E O'Hara.   

Abstract

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Year:  1971        PMID： 5551881

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  9 in total

1.  Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.

Authors:  R J Hodach; C Viseskul; E F Gilbert; J P Herrmann; J J Wolfson; E G Kaveggia; J M Opitz
Journal:  Z Kinderheilkd       Date:  1975

2.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  Pitfalls of genetic counselling in Pfeiffer's syndrome.

Authors:  M Baraitser; M Bowen-Bravery; P Saldaña-Garcia
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

4.  Pfeiffer syndrome: report of a family and review of the literature.

Authors:  Y Naveh; A Friedman
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

Review 5.  A case of Pfeiffer syndrome.

Authors:  Moon Sung Park; Jae Eon Yoo; Jaiho Chung; Soo Han Yoon
Journal:  J Korean Med Sci       Date:  2006-04       Impact factor: 2.153

Review 6.  Nervous system involvement in Pfeiffer syndrome.

Authors:  Ioannis N Mavridis; Desiderio Rodrigues
Journal:  Childs Nerv Syst       Date:  2020-10-20       Impact factor: 1.475

7.  An unusual form of familial acrocephalosyndactyly.

Authors:  I D Young; P S Harper
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

8.  Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report.

Authors:  Min Jeong Jang; Moon Bae Ahn
Journal:  Children (Basel)       Date:  2022-04-12

9.  De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.

Authors:  Rafat Mosalli; Alfia Fatma; Mohammed A Almatrafi; Mayada Mazroua; Bosco Paes
Journal:  Case Rep Genet       Date:  2022-06-28
  9 in total

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