All individuals with variants in gene PLOD2

32 entries on 1 page. Showing entries 1 - 32.
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00293240 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00300309 163927 - - ? ? Finland - 00y - - - ? Miscarriage 18+0, Karyotype from placental sample: mos 47, XY,+12(2)/ 46,XY (28), Array CGH from DNA of skin sample of fetus mortus was normal, obduction revealed cleft palate and gastroschisis or omphalocele, previous pregnancy miscarried 33+0, obduction: no structural abnormalities 2 1 Andreas Laner
00300314 FamPMPatII1/2, Pat7/8 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives; previously reported by Breslau-Siderius (individuals 7 and 8 Table 2) F;M yes Kuwait Kurdish - - - - BRKS see paper; ... 1 1 Johan den Dunnen
00300315 FamDRPatII1/2/4 Pat1/2/3 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, 2 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives; previously described by Breslau-Siderius 1998 (individuals 1, 2 and 3 Table 2) F;M no Australia - - - - - BRKS see paper; ... 1 3 Johan den Dunnen
00300316 FamPatII1 PubMed: Ha-Vinh 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - BRKS see paper; ..., 1d-congenital contractures with pterygia; severe OI-like osteopenia, multiple fractures 1 1 Johan den Dunnen
00300319 Fam3Case3 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, second cousin parents M yes Egypt - - - - - OI onset fractures 7d; fractures different sites both upper and lower limbs (7y->30 fractures); 1d-contracture both elbows, wrists, knees and ankles, bilateral talipes; pterygium both elbows, knees and axilla; protruding chest with flaring lower ribs; kyphoscoliosis; white sclera; high arched palate, enamel hypoplasia and hypocalcification, dental caries; no hearing impairment; severe bowing bones, bilateral clasped thumbs, arachnodactyly; delayed gross motor development, 7y-no unsupported standing; 16m-eight 9 kg (-2.1SD), length 72.0 cm (-3.0SD), OFC 45.8 cm (-1.3SD); 7y-weight 16.6 kg (-2.2SD), length 101.0 cm (-3.6SD), OFC 51.4 cm (-0.5SD); Wormian bones skull; severe platyspondyly, coronal clefts, widening metaphyses, multiple fractures with callus formation and angulation both humeri and femora, fair bone modelling; 4y-osteopenia spine (Z-score: -1.23), osteopenia femur (Z-score: -1.52) 1 1 Johan den Dunnen
00300320 Fam4Case4 PubMed: Puig-Hervas 2012 2-generation family, 2 affected sisters, first cousin parents F yes Egypt - - - - - OI onset fractures 9m; fractures both femora; 1d-contracture both knees, talipes deformity; pterygium both knees; narrow chest with flaring lower ribs; mild kyphoscoliosis; white sclera; high arched palate, enamel hypocalcification; no hearing impairment;; delayed gross motor development, 2y6m-no unsupported sitting; 2y6m-weight 8.5 kg (-3.0SD), OFC 46.5 cm (-2.0SD); Wormian bones skull; generalized decreased bone density, broad metaphyses, loss bone modelling, fracture upper 1/3 femur, thin tibiae and fibulae with bowing and cystic changes epiphyses lower femur, upper and lower tibiae, contracture knees, old fractures ribs, scoliosis, compressed thoracic vertebrae, deformed right clavicle, old partially united fracture right ulna, both femoral shafts with angulation, fair bone modelling; 1 2 Johan den Dunnen
00300321 Fam5Case5 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, second cousin parents M yes Egypt - - - - - OI onset fractures birth; 8 fractures in all limbs (more lower limbs); 1d-contracture both knees and elbows (more left side), right talipes equinovalgus, camptodactyly 3-5 fingers bilaterally; pterygium both elbows, knees and axilla; short narrow protruding chest; left scoliosis thoracic vertebrae kyphosis lumbar vertebrae; white sclera; high arched palate, wide overjet; no hearing impairment; birth left shoulder dislocation resolved spontaneously, depressed medial border left scapula, bilateral clasped thumbs, internal rotation right leg, dimple on anterior surface both knees; delayed gross motor development, 2y-no unsupported sitting; 1y-weight 8.0 kg (-2.0SD), OFC 43.7 cm (-1.75SD); Wormian bones skull; irregularity both humeri (diaphyseal dysplasia), bowing both femora, fractures at different ages healing humeri, femora and ribs Kyphoscoliosis with mild compression thoracic vertebrae, loss bone modelling; 1y-osteoporosis femur (Z-score: -2.68), osteopenia spine (Z-score: -1.59) 1 1 Johan den Dunnen
00300322 Fam6Case6 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, first cousin parents M yes Egypt - - - - - OI onset fractures birth; fractures left clavicle, both forearms, ribs, femora; 1d-contracture both knees and elbows, camptodactyly left 4th and 5th fingers and right 5th finger, bilateral talipes deformity; pterygium both elbows and knees, webbing fingers; short chest with flaring lower ribs, pectus carinatum; scoliosis; white sclera; high arched palate, brownish discoloration teeth, dental caries; no hearing impairment; bilateral simian crease; severe bone deformities, bowing and angulations upper and lower limbs, arachnodactyly; delayed gross motor development, 5y-aided walk; 1y-weight 6.5 kg (-3.7SD), length 63.0 cm (-5.0SD), OFC 42.7 cm (-2.5SD); 6y-weight 12.0 kg (-3.4SD), length 89.0 cm (-4.8SD), OFC 49.0 cm (-2.1SD); Wormian bones skull; decreased bone density, severe bowing and angulations long bones lower limbs, cystic changes lower femoral and upper tibial metaphyses, bilateral transverse fractures femora, left transverse fractures radius and ulna, old fractures ribs, malunion femur fractures and left forearm, fracture both upper humerus, scoliosis, loss bone modelling; 1y-marked osteoporosis lumbar spine (Z-score: -5.66), proximal femur (Z-score: -5.5) and distal radius 1 1 Johan den Dunnen
00300323 Fam7Case7 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, first cousin parents M yes Spain - - - - - OI onset fractures 2y; average 10 fractures/year, mainly lower limbs; no contractures; no pterygium; deformed chest with flaring ribs; severe kyphoscoliosis thoracic and lumbar vertebrae; white sclera; no oro-dental anomalies; no hearing impairment; generalized hypotonia, muscle wasting, partial ptosis eye lids, short philtrum, macrostomia, thick lips, thick upper ear helices, short neck; dislocation left shoulder joint, prominent clavicles, arachnodactyly fingers, prominent knee joints, anterior bowing right leg, bilateral clinodactyly 5th toes; difficulty walking with limping; 12y-weight normal range, length -4.3SD, OFC normal range; Wormian bones skull; diffuse decreased bone texture, thin long bones upper and lower limbs, multiple malunited fractures lower limbs with callus formation, bowing tibia and fibulae, metaphyseal widening lower ends femora, crowded deformed ribs; 15y-osteoporosis left hip (Z-score: -2.29), osteopenia spine (Z-score: -1.34) 1 1 Johan den Dunnen
00300324 Fam8Case8-II2 PubMed: Puig-Hervas 2012 2-generation family, 2 affected brothers M no Spain - - - - - OI onset fractures 17 months; two fractures, one in each tibia; no contractures; no pterygium; normal chest; very mild scoliosis; white sclera; no oro-dental anomalies; no hearing impairment; pes valgus; slight bowing legs (tibia vara); normal gross motor development; weight normal range, length normal range, OFC normal range; no Wormian bones skull; decreased bone density, more severe in limbs, mild bowing tibias, thoracic-lumbar scoliosis; 12y-osteoporosis lumbar spine (Z-score: -2.45) 2 2 Johan den Dunnen
00300325 Fam8Case9-II3 PubMed: Puig-Hervas 2012 brother II3 M no Spain - - - - - OI onset fractures 3m; 25-30 fractures in limbs (more right femur); cervical contracture (torticollis) during first month life; no pterygium; normal chest; no scoliosis; greyish-blue sclera; no oro-dental anomalies; no hearing impairment; bilateral palpebral ptosis, corrected strabismus; bowing right femur with external rotation hips, corrected tibial bowing; delayed gross motor development, 9m-sit, 15m-walk, 20m-lost ability to walk, 7y-walk with aid; weight normal range, length normal range, OFC normal range; Wormian bones skull; decreased bone density, more severe in limbs, bowing femur and tibias, fractures femora at different ages healing; 3y-generalized osteoporosis (Z-score: -3.5), 4y-generalized osteopenia (Z-score: -1.4), 5y-generalized osteopenia (Z-score: -0.84) 2 1 Johan den Dunnen
00300327 Fam2Pat2 PubMed: Zhou 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - OI see paper; ... 2 1 Johan den Dunnen
00300330 Fam91 PubMed: Caparros-Martin 2016 - - yes Egypt - - - - - OI - 1 1 Johan den Dunnen
00300331 Fam1020 PubMed: Caparros-Martin 2016 - - yes Egypt - - - - - OI - 1 2 Johan den Dunnen
00300333 Fam1Pat1 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - OI height 140cm (25th), weight 39kg (50th–75th); congenital joint contractures ; 3m-first fracture; 3 fractures; scoliosis ; clubfeet ; camptodactyly ; no pterygia ; white sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones 2 1 Johan den Dunnen
00300334 Fam2Pat2 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - OI height 101cm (<3rd), weight 16kg (<3rd); congenital joint contractures ; 1y-first fracture; 4 fractures; no scoliosis ; no clubfeet ; camptodactyly ; no pterygia ; blue–gray sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones 2 1 Johan den Dunnen
00300335 Fam3Pat3 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - OI height 93cm (50th), weight 13.5kg (25th–50th); congenital joint contractures ; 2m-first fracture; 3 fractures; no scoliosis ; no clubfeet ; camptodactyly ; pterygia ; white sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones 2 1 Johan den Dunnen
00300337 Fam1Pat1 PubMed: Leal 2018 family, 2 fetuses M no Italy;Sweden;Finland - <0d - - - OI 15w-missed abortion; fractures at birth, multiple pretal fractures; angulated long bones; under-mineralized skull; hypertelorism, broad nose 2 2 Johan den Dunnen
00300338 Fam1Pat2 PubMed: Leal 2018 - F no Italy;Sweden;Finland - <0d - - - OI 13w-pregancy terminated; fractures at birth, multiple pretal fractures; angulated long bones; under-mineralized skull 2 1 Johan den Dunnen
00300339 Fam2Pat2 PubMed: Leal 2018 - M no Brazil - 3m - - - OI 3m-died of respiratory failure; 1d-camptodactyly; no clubfeet, feet in varus; multiple rib and clavicle fractures at birth, 2m-humerus fracture; angulated long bones; no osteopenia; mandibular hypoplasia, retrogthia, prominent eyes, broad sal root, facial nevus flammeus, cleft palate, skin dimples; ventricular septal defect, respiratory and feeding difficulties 1 1 Johan den Dunnen
00300340 Fam3Pat3 PubMed: Leal 2018 family, 2 affected F yes Afghanistan - - - - - OI 1d-contractures elbows, hips, knee and ankle joints; no clubfeet, feet in varus; no fractures at birth, 3y-multiple healed and non-healed fractures in arms, legs and vertebrae, >3y-multiple fracture; bowed long bones; Wormian bones; osteoporosis, no osteopenia; normal sclera, nornal teeth; severe kypho-scoliosis, pectus caritum; no dysmorphology; 18y-length 129cm (-5.1), weight 26kg, OFC 54.5cm; motor development can bottom shuffle; non-developed left patella, BiPAP during night time since 12y, severe protrusio acetabuli, continuous pain 1 2 Johan den Dunnen
00300341 Fam3Pat4 PubMed: Leal 2018 - F yes Afghanistan - - - - - OI no contractures at birth; no clubfeet; multiple healed and non-healed fractures in arms and ribs, 7m-bilateral cervical fractures on atlas and axis and a fracture of C4; slightly curved lower legs; Wormian bones; grey-white sclera; no scoliosis; 7m-length 68cm (+0.31), weight 6.60 kg (-1.13), OFC 40.9cm (-1.46); motor development sit with support; brachial plexus injury, torticollis secondary to fractures in cervical spine 1 1 Johan den Dunnen
00300342 Fam4Pat4 PubMed: Leal 2018 - M yes Palestine - - - - - OI no contractures at birth; no clubfeet; no fractures at birth, 2y-stress fracture left tibia, >2y 5 fractures; no bowed long bones; osteoporosis, no osteopenia; white sclera, normal teeth; no scoliosis; no dysmorphology; 17y-length 174.5cm (z−0.1), weight 83.4kg; motor development walk without support; severe pain 1 1 Johan den Dunnen
00300343 Pat PubMed: Mumm 2020 - F - United States England;Ireland;Germany - - - - OI see paper; ... 2 1 Johan den Dunnen
00300344 Case2 PubMed: Santana 2019 - F - United States - - - - - OI see paper; ... 1 1 Johan den Dunnen
00300346 Pat Arora 2018 (Genetic Clinics 11:6-10) - M - India - - - - - OI see paper; ... 1 1 Johan den Dunnen
00300378 Fam32 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 2 1 Johan den Dunnen
00372761 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - BRKS - 1 1 Xiuli Zhao
00434802 Hydro229-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - HYC congenital hydrocephalus 1 1 Johan den Dunnen
00434803 Hydro451-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - HYC congenital hydrocephalus 1 1 Johan den Dunnen
00470708 Pat69 PubMed: Horbacz 2025 patient, affected father F - Poland - - - - - scoliosis see paper; ... scoliosis, no other skeletal defects; back pain; aphasia; no physical activity 1 1 Johan den Dunnen
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