Literature DB >> 12661815

Schinzel acrocallosal syndrome.

Sheffali Gulati1, Shaji Menon, Madhulika Kabra, Veena Kalra.   

Abstract

Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.

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Year:  2003        PMID: 12661815     DOI: 10.1007/BF02723749

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  16 in total

1.  Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.

Authors:  I Kedar; A Amiel; M Fejgin; A Drugan
Journal:  Am J Med Genet       Date:  1996-04-24

2.  The acrocallosal syndrome in sisters.

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

3.  The acrocallosal syndrome: expansion of the phenotypic spectrum.

Authors:  I W Lurie; I V Naumchik; E A Wulfsberg
Journal:  Clin Dysmorphol       Date:  1994-01       Impact factor: 0.816

4.  The acrocallosal syndrome.

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

5.  Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

Authors:  R A Pfeiffer; G Legat; U Trautmann
Journal:  Ann Genet       Date:  1992

6.  Spectrum of the acrocallosal syndrome.

Authors:  Rainer Koenig; Alexia Bach; Ulrike Woelki; Karl-Heinz Grzeschik; Sigrun Fuchs
Journal:  Am J Med Genet       Date:  2002-02-15

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 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

10.  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

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  3 in total

1.  Acrocallosal syndrome in a young hypertensive male.

Authors:  Vishal V Ramteke; Pramod A Darole; Zohaib Farooqui Shaikh; Namita J Padwal; Brijesh Agrawal; Makardhwaj S Shrivastava; Sandhya Kamath
Journal:  BMJ Case Rep       Date:  2011-05-03

2.  Orodental manifestations in cases with partial agenesis of corpus callosum-rare phenomena.

Authors:  Annette M Bhambal; Ajay Bhambal; Preeti Nair; Sheela S Bhambal
Journal:  J Oral Biol Craniofac Res       Date:  2015-06-06

3.  Anaesthetising an infant with acrocallosal syndrome: An unusual case.

Authors:  Bharathi Hosdurg; Anita Pramod Nair; Jayashree Simha; Suma Sriramanan
Journal:  Indian J Anaesth       Date:  2018-05
  3 in total

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