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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

✍ Scribed by Miles D. Thompson; Marjan M. Nezarati; Gabriele Gillessen-Kaesbach; Peter Meinecke; Roberto Mendoza; Etienne Mornet; Isabelle Brun-Heath; Catherine Prost Squarcioni; Laurence Legeai-Mallet; Arnold Munnich; David E.C. Cole

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 283 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33438

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## Abstract Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been id