Literature DB >> 3366141

The acrocallosal syndrome.

N Philip1, N Apicella, I Lassman, S Ayme, J F Mattei, F Giraud.   

Abstract

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.

Entities:  

Mesh:

Year:  1988        PMID: 3366141     DOI: 10.1007/bf00442226

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  9 in total

1.  The acrocallosal syndrome in sisters.

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

2.  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

3.  Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

Authors:  E Legius; J P Fryns; P Casaer; M Boel; E Eggermont
Journal:  Ann Genet       Date:  1985

4.  [Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism].

Authors:  J P Fryns
Journal:  J Genet Hum       Date:  1982-12

5.  The acrocallosal syndrome.

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

6.  Four patients including two sisters with the acrocallosal syndrome (agenesis of the corpus callosum in combination with preaxial hexadactyly).

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  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

Review 8.  The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.

Authors:  T R Gollop; L R Fontes
Journal:  Am J Med Genet       Date:  1985-09

9.  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 in total
  8 in total

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

Authors:  L Turolla; M Clementi; R Tenconi
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Further delineation of the acrocallosal syndrome.

Authors:  Z Gelman-Kohan; J Antonelli; H Ankori-Cohen; H Adar; J Chemke
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183

3.  The acrocallosal syndrome and Greig syndrome are not allelic disorders.

Authors:  L A Brueton; K A Chotai; L van Herwerden; A Schinzel; R M Winter
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 4.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

5.  The acrocallosal syndrome in a Turkish boy.

Authors:  M Yüksel; M Caliskan; G Oğur; M Ozmen; G Dolunay; S Apak
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

6.  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 7.  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

8.  Gli3 controls the onset of cortical neurogenesis by regulating the radial glial cell cycle through Cdk6 expression.

Authors:  Kerstin Hasenpusch-Theil; Stephen West; Alexandra Kelman; Zrinko Kozic; Sophie Horrocks; Andrew P McMahon; David J Price; John O Mason; Thomas Theil
Journal:  Development       Date:  2018-08-20       Impact factor: 6.862

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.