All individuals with variants in gene ARSK

4 entries on 1 page. Showing entries 1 - 4.
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00418579 Fam1S1 PubMed: Verheyen 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Austria Turkey - - - - ? height 146.5 cm, -3.25 SD, weight 68 kg, OFC 59 cm, 2.52 SD; coarse facial features; 14y-mild myopia, mild lens and vitreous opacity, mild retinal pigmentation temporal fovea; normal audiogram and tympanogram; open bite, wide spaced teeth, diastemata, canine-like appearance of lateral incisors; hands normal; disproportionate short-trunk short stature, genu valgus, mild scoliosis; liver normal; spleen normal; kidneys normal; systolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps, mild left ventricular hypertrophy; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; no hyperlordosis; no scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs 1 2 Johan den Dunnen
00418580 Fam1S2 PubMed: Verheyen 2022 brother M yes Austria Turkey - - - - ? height 150 cm, -1.94 SD, weight 49 kg, OFC 58.5 cm, 1.95 SD; coarse facial features; mild lens and vitreous opacity, mild retinal pigmentation temporal fovea; normal audiogram and tympanogram; open bite, wide spaced teeth, canine-like appearance of lateral incisors; hands normal, intermittent paresthesia; disproportionate short-trunk short stature, mild genu valgus; liver normal; spleen normal; kidneys normal; systolic and diastolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; no hyperlordosis; scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs 1 1 Johan den Dunnen
00418581 Fam2S3 PubMed: Verheyen 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - ? height 157 cm, -3.22 SD, OFC 53 cm, -2.21 SD; coarse facial features, long philtrum, broad nasal root; normal eyes; normal auditory system; normal jaw, normal teeth; normal habds/wrists; disproportionate short-trunk short stature, genu valgus; liver normal; spleen normal; ; heart normal; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; hyperlordosis; no scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs 1 2 Johan den Dunnen
00418582 Fam2S4 PubMed: Verheyen 2022 brother M yes India - - - - - ? height 145.5 cm, -4.53 SD, weight 32.48 kg, OFC 52.5 cm, -2.41 SD; coarse facial features, long philtrum, broad nasal root; normal eye, no corneal opacity, normal fundus; normal auditory system; normal jaw, normal teeth; brachydactyly, arthropathy of right wrist; disproportionate short-trunk short stature, genu valgus, mild scoliosis; liver normal; spleen normal; 6y-operation for right renal calculus; heart normal; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; hyperlordosis; scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs 1 1 Johan den Dunnen
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