Literature DB >> 856233

Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.

A F Alves, E S Azevedo.   

Abstract

Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.

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Year:  1977        PMID: 856233      PMCID: PMC1013533          DOI: 10.1136/jmg.14.2.139

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


  4 in total

1.  The "whistling face" characteristic in a compound cranio-facio-corporal syndrome.

Authors:  F BURIAN
Journal:  Br J Plast Surg       Date:  1963-04

2.  Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations.

Authors:  S Weinstein; R J Gorlin
Journal:  Am J Dis Child       Date:  1969-04

3.  Freeman-Sheldon's syndrome, cranio-carpo-tarsal dystrophy.

Authors:  A E Rintala
Journal:  Acta Paediatr Scand       Date:  1968-11

4.  Cranio-carpo-tarsal dysplasia. Report of a case in father and son.

Authors:  F C Fraser; H Pashayan; M E Kadish
Journal:  JAMA       Date:  1970-02-23       Impact factor: 56.272

  4 in total
  5 in total

1.  Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance.

Authors:  J S Fitzsimmons; V Zaldua; A R Chrispin
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

2.  A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.

Authors:  M Baraitser; J Burn; J Fixsen
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

Review 3.  Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.

Authors:  Vivek Gurjar; Anita Parushetti; Minal Gurjar
Journal:  J Maxillofac Oral Surg       Date:  2012-05-17

4.  Adducted thumb syndrome. Report of a new case and a diagnostic approach.

Authors:  J Kunze; W Park; K H Hansen; F Hanefeld
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

5.  Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Authors:  A M Ali; R M Mbwasi; G Kinabo; E-J Kamsteeg; B C Hamel; M C J Dekker
Journal:  Case Rep Genet       Date:  2017-05-11
  5 in total

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