Literature DB >> 457430

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

A Schinzel.   

Abstract

A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.

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Year:  1979        PMID: 457430

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  12 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.  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

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.  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

6.  Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Authors:  Aysegül Ibisler; Ute Hehr; Andre Barth; Margarete Koch; Jörg T Epplen; Sabine Hoffjan
Journal:  Mol Syndromol       Date:  2015-10-07

7.  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

8.  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

9.  Oculomotor-corpus callosum dysplasia.

Authors:  T E Acers; C Blackwell
Journal:  Trans Am Ophthalmol Soc       Date:  1982

10.  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
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