Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it
Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. GLI3, the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:35 |
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| Enthalten in: |
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 35(2022), 11 vom: 01. Juni, Seite 2162-2165 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Garcia-Rodriguez, Raquel [VerfasserIn] |
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| Links: |
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| Themen: |
Hypertelorism |
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| Anmerkungen: |
Date Completed 21.04.2022 Date Revised 21.04.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1080/14767058.2020.1774541 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM310753147 |
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| 520 | |a Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. GLI3, the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome | ||
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