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J Pediatr Genet 2020; 09(04): 258-262
DOI: 10.1055/s-0039-3402047
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Siulan Vendramini-Pittoli 
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
,
Rosana Maria Candido-Souza 
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
,
Rodrigo Gonçalves Quiezi
2   Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom
,
Roseli Maria Zechi-Ceide
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
,
Nancy Mizue Kokitsu-Nakata
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
,
Fernanda Sarquis Jehee
3   Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
,
Lucilene Arilho Ribeiro-Bicudo
4   Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Goiás, Brazil
,
David R. FitzPatrick
2   Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom
,
Maria Leine Guion-Almeida
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
,
Antonio Richieri-Costa
1   Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil
› Author Affiliations Funding This work was supported by CNPq (301926/2007-7 to A.R.-C.).
Further Information

Publication History

17 June 2019

07 November 2019

Publication Date:
03 January 2020 (online)

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Abstract

The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

Keywords

MIDAS syndrome - microphthalmia - linear skin defects - callosal agenesis - Xp22.3p22.2 deletion
 

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