All individuals with variants in gene PHLDB1

5 entries on 1 page. Showing entries 1 - 5.
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00435419 Fam1PatIV1 PubMed: Tuysuz 2023 4-generation family, 3 affected (sister, twin brothers), unaffected heterozygous first cousin parents F - Turkey - - - - - OI height SD-2.2; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 6m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 3m-head control, 16m-sit, 30m-walk; speech on time; good school performance; 14m-fracture left femur, 22m-left femur, 5y-right femur; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; insulin resistance; acanthosis nigricans; osteopaenia; no platyspondyly; mild femoral bowing; coxa vara 1 1 Johan den Dunnen
00435420 Fam1PatIV2 PubMed: Tuysuz 2023 twin brother M - Turkey - - - - - OI birth height SD-0.9; height SD-1.3; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 4m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; no large femoral head; 2m-head control, 12m-sit, 27m-walk; speech on time; good school performance; no fractures; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara 1 1 Johan den Dunnen
00435421 Fam1PatIV3 PubMed: Tuysuz 2023 twin brother M - Turkey - - - - - OI birth height SD-0.9; height SD-1.3; blue sclerae; broadening of wrist; no torticollis; no hip dislocation; no short stature; bowing on lower extremities; 4m15d-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; no large femoral head; 2m-head control, 12m-sit, 27m-walk; speech on time; good school performance; no fractures; white sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara 1 1 Johan den Dunnen
00435422 Fam2PatIV1 PubMed: Tuysuz 2023 4-generation family, 2 affected (sister/brother), unaffected heterozygous first cousin parents F - Turkey - - - - - OI birth height SD-0.7; height SD-2; grey sclerae; broadening of wrist; no torticollis; hip dislocation; short stature; bowing on lower extremities; 7m15d-initial radiological findings; generalised osteopaenia; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 2m-head control, 9m-sit, 18m-walk; speech on time; good school performance; 3y9m-fracture right femur, 4y6m-left femur, 5y-right femur; grey sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara 1 1 Johan den Dunnen
00435423 Fam2PatIV2 PubMed: Tuysuz 2023 brother M - Turkey - - - - - OI birth height SD-0.9; height SD-2.5; blue sclerae; broadening of wrist; torticollis; no hip dislocation; short stature; bowing on lower extremities; 6m-initial radiological findings; generalised osteopaenia; severe platyspondyly; shallow acetabulum; enlarged proximal metaphysis femur with medial part beak-shaped; cupping, irregular, wide metaphysis lower limb bones; cortical bone erosion and femoral new bone formation; large femoral head; 3m-head control, 8m-sit, 23m-walk; speech on time; good school performance; no fractures; grey sclerae; increased lumbar lordosis; mild genu valgum; truncal obesity; no insulin resistance; acanthosis nigricans; osteopaenia; mild platyspondyly; mild femoral bowing; coxa vara 1 1 Johan den Dunnen
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