On physical examination his weight, height, and head circumference were 22 kg (between 0 and 1 SD), 99 cm ( 3 SD proportionate short stature), and 47.8 cm ( 3 percentiles), respectively. [hindawi.com]

short stature, brachydactyly, and joint stiffness [20]. [rbht.nhs.uk]

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. Am J Med Genet A. 2011;155A(1):180-185. Google Scholar Crossref Medline ISI 32. Tokgoz-Yilmaz, S, Sahli, S, Fitoz, S, et al. [journals.sagepub.com]

In contrast, our patient showed a broad thorax and short fingers and toes [6]. Short stature despite involving both appendicular and axial skeleton maintained proportion in our case. [hindawi.com]

In our case, eye findings were high myopia, vitreous changes, corneal opacity, uveitis, and ptosis. [hindawi.com]

opacity Premature osteoarthritis Retinopathy Short neck Long fingers Kyphosis Spondyloepiphyseal dysplasia Bifid uvula Joint hypermobility Arachnodactyly Depressed nasal bridge Broad forehead Hyperlordosis Hypoplasia of the maxilla Narrow chest Micromelia [mendelian.co]

opacities, heart, liver and spleen problems1 Enlarged Vestibular Aqueduct An enlarged vestibular aqueduct apparently is the result of hydrodynamic changes and possibly labyrinthine membrane disruption. [juniperpublishers.com]

Ocular abnormalities include blepharoptosis, microopthalmia, epibulbar tumors, and retinal abnormalities leading to reduced visual acuity. 20. Rubella i. Consists of a triad characterized by deafness, congenital cataracts and heart defects. ii. [juniperpublishers.com]

Features of midface hypoplasia, early onset high grade myopia, platyspondyly, and epiphyseal changes are compatible with differential diagnosis of acromesomelic dysplasia (AMD) (mesomelic shortening, platyspondyly, brachydactyly, prominent first toes, [hindawi.com]

SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. [abcam.com]

[…] loss Platyspondyly Scoliosis - - - Patient IV 7 Phenotypic characterization Cleft palate Myopia Conductive hearling loss Platyspondyly Scoliosis Waddling Patient V 9 Phenotypic and mutation of COL2A1 Cleft palate Myopia Hypermobile tympanic membrane [medsci.org]

The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. [mendelian.co]

Diffuse osteopenia was evident at the epiphysis of bilateral femora and tibiae which were normal in shape, apart from mild flattening of the distal femoral epiphyses. [hindawi.com]

Large osteophytes associated with marked narrowing of the joint spaces, sclerosis and subsequent deformity of the bony contour, coxa valga and osteopenia were present (fig 6). [medsci.org]

[…] percentile by age/race/sex), joint laxity, hyperextensible joints, arachnodactyly or long fingers, dolichostenomelia or long limbs, scoliosis, pectus deformities of the anterior chest wall, congenital contractures of the digits and elbows, and generalized osteopenia [e-tjo.org]

Facial features revealed midface hypoplasia, depressed nasal bridge, micrognathia, thick lips, and wide mouth. The left eye was smaller than the right along with eye ptosis and corneal opacity (Figure 1). [hindawi.com]

Gene mapped to Xq 28 and is labelled as IDS CHL, Chronic middle ear disorder, glue ear, progressive HL I Symptoms Short stature, cognitive defects, Thick lips, alveolar ridge hypertrophy, thickening of palate, abnormal retinal pigmentation, retinal degenration [juniperpublishers.com]

They found scoliosis in 34% cases, 74% endplate abnormalities, 64% Schmorl’s nodes, 43% platyspondyly, and Scheuermann-like kyphosis in 43% [8]. [hindawi.com]