Literature DB >> 9066878

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

W Courtens1, E Vamos, C Christophe, A Schinzel.   

Abstract

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.

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Year:  1997        PMID: 9066878     DOI: 10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q

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


  13 in total

1.  Genetic counseling in acrocallosal syndrome.

Authors:  Sunita Bijarnia; Ashok Baijal; I C Verma
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

2.  Diagnosing acrocallosal syndrome.

Authors:  Ashutosh Gupta; Seema Thakur; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2003-02       Impact factor: 1.967

3.  Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.

Authors:  Subramanian Subramanian; Deepa Soundara Rajan; Jenna Gaesser; Cecilia Wen-Ya Lo; Ashok Panigrahy
Journal:  Pediatr Radiol       Date:  2019-08-09

4.  A large duplication involving the IHH locus mimics acrocallosal syndrome.

Authors:  Memnune Yuksel-Apak; Nina Bögershausen; Barbara Pawlik; Yun Li; Selcuk Apak; Oya Uyguner; Esther Milz; Gudrun Nürnberg; Birsen Karaman; Ayan Gülgören; Karl-Heinz Grzeschik; Peter Nürnberg; Hülya Kayserili; Bernd Wollnik
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

5.  Schinzel acrocallosal syndrome.

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

6.  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

7.  Acro-callous syndrome: A case report.

Authors:  A Lamrissi; F E Madri; M Charkaoui; M Mourabbih; M Jalal; S Bouhya
Journal:  Int J Surg Case Rep       Date:  2022-05-20

8.  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

9.  A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Authors:  Bassam R Ali; Jennifer L Silhavy; Nadia A Akawi; Joseph G Gleeson; Lihadh Al-Gazali
Journal:  Orphanet J Rare Dis       Date:  2012-05-15       Impact factor: 4.123

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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