Literature DB >> 2103730

How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

L Turolla1, M Clementi, R Tenconi.   

Abstract

A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic.

Entities:  

Mesh：

Year:  1990        PMID： 2103730      PMCID： PMC1017202          DOI： 10.1136/jmg.27.8.516

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


  11 in total

1.  The acrocallosal syndrome.

Authors:  N Philip; N Apicella; I Lassman; S Ayme; J F Mattei; F Giraud
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  The acrocallosal syndrome in sisters.

Authors:  A Schinzel; U Kaufmann
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

3.  Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

Authors:  A Schinzel
Journal:  Helv Paediatr Acta       Date:  1979-05

4.  The acrocallosal syndrome.

Authors:  M M Nelson; A J Thomson
Journal:  Am J Med Genet       Date:  1982-06

5.  Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?

Authors:  A Sanchis; L Cerveró; A Martínez; C Valverde
Journal:  Am J Med Genet       Date:  1985-01

6.  Acrocallosal syndrome in a girl born to consanguineous parents.

Authors:  L J Salgado; C A Ali; E E Castilla
Journal:  Am J Med Genet       Date:  1989-03

7.  Acrocallosal syndrome: new findings.

Authors:  J B Moeschler; B R Pober; L B Holmes; J M Graham
Journal:  Am J Med Genet       Date:  1989-03

8.  Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Authors:  A Schinzel; W Schmid
Journal:  Am J Med Genet       Date:  1980

9.  The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

Review 10.  Hypogenitalism in the acrocallosal syndrome.

Authors:  S A Temtamy; N A Meguid
Journal:  Am J Med Genet       Date:  1989-03
View more
  4 in total

1.  Diagnosing acrocallosal syndrome.

Authors:  Ashutosh Gupta; Seema Thakur; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

2.  The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.

Authors:  J P Fryns; A Spaepen; C Grubben; H van den Berghe; P Casaer
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

3.  A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

Authors:  S Cataltepe; E Tuncbilek
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

Review 4.  The many faces of KIF7.

Authors:  Duna Barakeh; Eissa Faqeih; Shams Anazi; Mohammed S Al-Dosari; Ameen Softah; Fahad Albadr; Hamdy Hassan; Anas M Alazami; Fowzan S Alkuraya
Journal:  Hum Genome Var       Date:  2015-02-26
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.