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A boy with severe craniodiaphyseal dysplasia and apparently normal mother

✍ Scribed by Tadeusz Bieganski; Dobromila Baranska; Irmina Miastkowska; Artur Kobielski; Magdalena Gorska-Chrzastek; Kazimierz Kozlowski


Book ID
101453201
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
470 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Boy with syndactylies, macrocephaly, and
✍ Sobetzko, Diana; Eich, Georg; Kalff-Suske, Martha; Grzeschik, Karl-Heinz; Supert πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 26 KB πŸ‘ 3 views

An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained