Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

Author:

Raposo Laura1ORCID,Fachada Helena1,Santos Paulo António1,Cerveira Isabel1,Castedo Sérgio23,Pereira Susana1

Affiliation:

1. Unidade de Medicina Fetal, Departamento de Obstetrícia e Ginecologia, Centro Hospitalar Tondela-Viseu; Hospital de S. Teotónio; Viseu Portugal

2. GDPN-Genética Médica e Diagnóstico Pré-natal; Porto Portugal

3. Departamento de Genética; Faculdade de Medicina; Porto Portugal

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference6 articles.

1. The Greig cephalopolysyndactyly syndrome;Biesecker;Orphanet Journal of Rare Diseases,2008

2. Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization;Timor-Tritsch;Journal of Ultrasound in Medicine,2009

3. Hamosh A Online Mendelian Inheritance in Man http://www.omim.org/entry/200990

4. Orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1519

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1. Polyhydramnios associated with rare genetic syndromes: two case reports;Journal of Medical Case Reports;2024-02-19

2. Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes;Journal of Medical Genetics;2020-06-26

3. Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.;The Journal of Maternal-Fetal & Neonatal Medicine;2020-06-04

4. Greig Cephalopolysyndactyly Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

5. Greig Cephalopolysyndactyly Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

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