The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. [ncbi.nlm.nih.gov]

short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal dysplasia Joint dislocation Hypoplastic iliac wing Autosomal recessive inheritance Metaphyseal dysplasia Blue sclerae Vertebral segmentation defect Intellectual [mendelian.co]

More recently, clinicians from Western Europe have described a girl of Turkish origin with PAPSS2 sequence variants who suffered from precocious puberty and bone problems, although her skeletal defects were far milder than those found in other people [riken.jp]

Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2. [ncbi.nlm.nih.gov]

The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism. [checkorphan.org]

The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. [answers.com]

The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. [diseaseinfosearch.org]

Bilateral coxa valga and mild acetabular irregularities were noticed on pelvic radiographies. Levels of chondroitin and heparan sulphate as well as the glycosaminoglycan/creatinine ratio were elevated in the 24-hour urine specimen. [ncbi.nlm.nih.gov]

valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [zfin.org]

The other members of the family were of normal stature and appearance. The proband's growth hormone stimulation tests, thyroid function tests, sex steroids, gonadotropins and blood biochemistry were found normal. [ncbi.nlm.nih.gov]

Multiple Forms, Included Amyloidosis I, Included Dysprealbuminemic Euthyroidal Hyperthyroxinemia, Included Familial Amyloid Polyneuropathy Hereditary Amyloidosis, Transthyretin-Related Hyperthyroxinemia, Dysprealbuminemic, Included Hyperthyroxinemia [ukgtn.nhs.uk]