Literature DB >> 2308155

The acrocallosal syndrome in a Turkish boy.

M Yüksel1, M Caliskan, G Oğur, M Ozmen, G Dolunay, S Apak.   

Abstract

A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.

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Mesh：

Year:  1990        PMID： 2308155      PMCID： PMC1016880          DOI： 10.1136/jmg.27.1.48

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


  9 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.  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

5.  Consanguineous marriages in the Turkish population.

Authors:  N Başaran; B S Sayli; A Başaran; M Solak; S Artan; J D Stevenson
Journal:  Clin Genet       Date:  1988-11       Impact factor: 4.438

6.  The acrocallosal syndrome.

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

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

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
  9 in total
  5 in total

1.  Schinzel acrocallosal syndrome.

Authors:  Sheffali Gulati; Shaji Menon; Madhulika Kabra; Veena Kalra
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

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

4.  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

5.  The acrocallosal syndrome in a neonate with further widening of phenotypic expression.

Authors:  Ravish Singhal; Sadbhavna Pandit; Ashok Saini; Paramjit Singh; Neeraj Dhawan
Journal:  Iran J Child Neurol       Date:  2014
  5 in total

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