However, the identification of the Y1391C mutation in this patient with disproportionate short stature made the diagnosis of spondyloperipheral dysplasia (SPD) more probable. [ncbi.nlm.nih.gov]

Disproportionate short stature was the most distinct feature between this individual and the ones with the R275C mutation. [nature.com]

short stature, was reclassi-fied as spondyloperipheral dysplasia after the detec-tion of a Y1391C mutation [Hoornaert et al., 2007].Osteoarthritis, the most debilitating aspect ofCzech dysplasia, is also a problem of Sticklerdysplasia, spondyloperipheral [myslide.es]

short stature Glossoptosis Enlarged joints Short 5th metacarpal Premature osteoarthritis Calcinosis cutis Subcutaneous calcification Prominent interphalangeal joints Large tarsal bones Nystagmus Prominent supraorbital ridges Strabismus Low-set ears Visual [mendelian.co]

Hearing problems had been noticedfor the first time at the age of 16 years, and the patientneeded hearing aids by the age of 39 years. [myslide.es]

Showing of 18 Percent of people who have these symptoms is not available through HPO Arthralgia Joint pain 0002829 Autosomal dominant inheritance 0000006 Coxa vara 0002812 Flat capital femoral epiphysis Flat end part of innermost thighbone 0003370 Flexion [rarediseases.info.nih.gov]

Vara) Osteochondritis of the Tibial Tuberosity (Osgood-Schlatter Disease) Osteochondritis of a Metatarsal Epiphysis Osteochondritis of the Navicular (Köhler's Disease) Osteochondritis of the Primary Center of a Vertebral Body Osteochondritis of the [elsevier.com]

Rickets Case findings: Diffuse osteopenia, widened growth plate Femoral and tibial metaphysis are frayed and cupped Enlargement of the anterior aspect of the ribs at the costochondral junction (rachitic rosary) Other findings (not shown): coxa vara, basilar [cram.com]

During the follow-up period, seven patients had increasing coxa vara (shepherd’s hook) requiring orthopedic surgery. Mobility score improved from 2 to 3 in two patients and remained unchanged in the others. [academic.oup.com]

Vara, And Tarsal Synostosis Scott-Taor Syndrome Small Patella Syndrome ICPPS 147891 Genetic Test Registry IVIC Syndrome Oculootoradial Syndrome Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia OORS 147750 Genetic [ukgtn.nhs.uk]

Abstract Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. [ncbi.nlm.nih.gov]

@article{390022, abstract {Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. [biblio.ugent.be]

The disorder is characterized by a spondyloarthropathy with normal stature and lack of orofacial anomalies. [nature.com]

Czech dysplasia is characterized by early-onset, progressive pseudo-rheumatoid arthritis, hearing loss starting in early adulthood, vertebral anomalies (mild platyspondyly, irregular plates reduced intervertebral distances), normal stature and short third [ojrd.biomedcentral.com]

Mainmanifestations were osteoarthrosis of hips, knees,shoulders and spine with onset in adolescence,osteochondromatosis particularly of knees, shortmetatarsals III and IV that became clinically visible asshort 3rd and 4th toes by late childhood, vertebralabnormalities [myslide.es]

long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short toe Short toes Stubby toes [ more ] 0001831 Thoracic kyphosis 0002942 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 18 Last updated: 5/1/2019 Making [rarediseases.info.nih.gov]

Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]