Literature DB >> 2658584

Acrocallosal syndrome: additional manifestations.

A C Casamassima1, D Beneck, M H Gewitz, M A Horowitz, P K Woolf, I M Pettersen, L R Shapiro.   

Abstract

The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. This patient had characteristics of the ACS but also had a severe congenital heart defect and other visceral malformations. After comparing the ACS with and contrasting it to other disorders, we concluded that the internal organ abnormalities found in this patient probably represent further manifestations of the ACS.

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Year:  1989        PMID: 2658584     DOI: 10.1002/ajmg.1320320306

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 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.  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

3.  Schinzel acrocallosal syndrome.

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

4.  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

5.  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

6.  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
  6 in total

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