Global InformationHyperphosphatasia with mental retardation syndrome information
| Hyperphosphatasia with mental retardation syndrome | |
|---|---|
| Other names | Mabry syndrome |
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| This condition is inherited in an autosomal recessive manner | |
Hyperphosphatasia with mental retardation syndrome, HPMRS,[1] also known as Mabry syndrome,[2] has been described in patients recruited on four continents world-wide.[3] Mabry syndrome was confirmed[4] to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.
- ^ Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA (July 1970). "Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits". The Journal of Pediatrics. 77 (1): 74–85. doi:10.1016/s0022-3476(70)80047-6. PMID 5465362.
- ^ Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mendoza R, et al. (July 2010). "Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome". American Journal of Medical Genetics. Part A. 152A (7): 1661–1669. doi:10.1002/ajmg.a.33438. PMID 20578257. S2CID 2806832.
- ^ Thompson MD, Killoran A, Percy ME, Nezarati M, Cole DE, Hwang PA (2006). "Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?". Pediatric Neurology. 34 (4): 303–307. doi:10.1016/j.pediatrneurol.2005.08.020. PMID 16638507.
- ^ Horn D, Schottmann G, Meinecke P (2010). "Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome". European Journal of Medical Genetics. 53 (2): 85–88. doi:10.1016/j.ejmg.2010.01.002. PMID 20080219.