Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

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hypophosphatasia 15 endocrinologydiseases
metabolic bone disease 2 endocrinologydiseases
rickets 4 endocrinologydiseases

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hypophosphatasia 62 Title: Pediatric RadiologyDifferential diagnosis of perinatal hypophosphatasia : radiologic perspectivesAmaka C. OffiahJerry VockleyCraig F. MunnsJun MurotsukiPublication date (epub):
hypophosphatasia 277 (epub): 10/2018Publication date (pmc-release): 10/2018Publication date (ppub): /2019AbstractPerinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be
hypophosphatasia 10370 been described in children [[46]] but may be less useful/practical in a perinatal setting.Perinatal hypophosphatasia A broad spectrum of skeletal characteristics is consistent with perinatal HPP in fetuses and neonates
hypophosphatasia 12264 when not visible on 2-D US [[56], [63]].Table 1Key radiographic and sonographic features of perinatal hypophosphatasia [[47]–[58]]Long bones: shortening, bowing, angulationSmall/narrow thorax (chest size smaller than
hypophosphatasia 12865 fontanellesbPolyhydramniosaSecond trimester (13–27 weeks’ gestation)bFull-term neonateFig. 4Imaging features of hypophosphatasia of a fetus of unknown gender at 18 weeks’ gestation.a-d Prenatal US scan in a longitudinal view of
hypophosphatasia 13501 Radcliffe Publishing [[38]], page 370, case 1, images 1a, 1c, 1f, and 1g]Fig. 5Imaging features of hypophosphatasia in a fetus at 25, 34, and 38 weeks’ gestation. The fetus died. a,b Three-dimensional reconstructed
hypophosphatasia 14081 gestation shows bowed femora (arrows) and absent ossification of pediclesFig. 6Imaging features of hypophosphatasia of an infant of unknown gender at birth. Anteroposterior radiograph of the left upper limb shows metaphyseal
hypophosphatasia 14458 permission from Radcliffe Publishing [[38]], page 374, case 11, image 11c]Fig. 7Imaging features of hypophosphatasia in a 3-week-old girl who died with HPP who died within the first 3 months of life.a-c Anteroposterior
hypophosphatasia 14906 metaphyseal “tongues” of radiolucency (arrows) in the upper chest (c)Fig. 8Imaging features of hypophosphatasia in a 3-month-old girl. a-c Anteroposterior radiographs show short bowed femora (arrows) (a), short bowed
hypophosphatasia 18410 [[49], [50], [52]].Fig. 9Images of a 1-day-old boy with a slowly progressing phenotype of perinatal hypophosphatasia . a Anteroposterior radiograph shows mild femoral bowing (arrows) of both lower limbs. b,c By comparison,
hypophosphatasia 18921 and femoral remodeling with growthFig. 10Images of a girl with a regressing phenotype of perinatal hypophosphatasia at 30 weeks’ gestation.a,b Three-dimensional fetal CT scans in the coronal view (a) and sagittal
hypophosphatasia 19328 change, although bowing persists (arrows)Fig. 11Images of a male of unknown age with benign perinatal hypophosphatasia show a less aggressive phenotype.a,b Anteroposterior radiograph (a) and three-dimensional reconstructed
hypophosphatasia 22641 and unusual lucency of the metadiaphyseal regions [[59]].Table 2Differential diagnoses for perinatal hypophosphatasia (HPP)Perinatal hypohposphatasia[[29], [61], [75]]Osteogenesis imperfecta type II[[56], [59], [61], [71]]Campomelic
hypophosphatasia 27879 third of the tibia (dashed arrow). Note the clinical spur (yellow arrow), which may also be seen in hypophosphatasia . [Images reproduced with permission from Radcliffe Publishing (38), page 246, case 1, image 1c]Fig.
hypophosphatasia 33252 small thorax. b An anteroposterior radiograph shows horizontal acetabula (dashed arrow)Suspicion of hypophosphatasia : Next stepsIf perinatal HPP is suspected, alkaline phosphatase activity may be assessed in umbilical
metabolic bone disease 361 /2019AbstractPerinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the
metabolic bone disease 1679 time to devise treatment strategies.IntroductionHypophosphatasia (HPP) is a rare, inherited, systemic, metabolic bone disease caused by low tissue-nonspecific alkaline phosphatase activity [[1]–[3]]. In patients with HPP, low
rickets 20535 complications.Differential diagnosisMetaphyseal abnormalities similar to those observed in HPP are also observed in rickets and osteopathy of prematurity [[69]]. Active rickets may present with widened zones of provisional calcification
rickets 20588 to those observed in HPP are also observed in rickets and osteopathy of prematurity [[69]]. Active rickets may present with widened zones of provisional calcification and wide costochondral junctions, including
rickets 20851 rachitic rosary). Osteopathy of prematurity is associated with radiologic changes characteristic of rickets , and fractures may be seen in infants with very low birth weights [[69], [70]].Osteogenesis imperfectaOsteogenesis
rickets 22397 density, metaphyseal widening/flaring and widening of the growth plates [[59]]. However, unlike active rickets , the metaphyses are sclerotic and irregular and there may be centrally located wedge-shaped sclerosis

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