The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an "oriental look" with midface hypoplasia and a saddle nose.[ncbi.nlm.nih.gov]
American Journal of Medical Genetics 63(1): 20-27, 1996 Sponastrime dysplasia: presentation in infancy . Journal of Medical Genetics 38(12): 889-893, 2002 Sponastrime dysplasia: Presentation in infancy .[eurekamag.com]
We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD.[docksci.com]
Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe shortstature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown.[ncbi.nlm.nih.gov]
SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by shortstature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.[manipal.pure.elsevier.com]
Physical features include severe shortstature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root (summary by Cooper et al., 2000). (271510) MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also[malacards.org]
On MRI, there is no associated softtissuemass. 13 Although it has previously been reported in the upper limb, 14 to our knowledge it has never been seen bilaterally.[jmg.bmj.com]
Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddlenose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown.[ncbi.nlm.nih.gov]
Craniofacial: large head, frontal bossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddle” nose is characteristic, mild prognathism.[accessanesthesiology.mhmedical.com]
Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxavara, and avascular necrosis of the capital femoral epiphyses.[ncbi.nlm.nih.gov]
Progressive coxavara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.[orpha.net]
Other occasional reported features include subglottic stenosis, bronchomalacia, avascular necrosis of hip, increased lordosis, scoliosis, progressive infantile coxavara, and joint deformities.[accessanesthesiology.mhmedical.com]
SPONASTRIME DYSPLASIA , SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES Classification bone, developmental, genetic Phenotypes Abnormality of the dentition ; Anteverted nares ; Autosomal recessive inheritance ; Biconcave vertebral bodies ; Coxa[mousephenotype.org]
She was mentally normal and complained of kneepain. No muscular weakness or muscular hypotonia was evident. Laboratory examinations were unremarkable other than increased serum creatine kinase (430 U/L).[updoc.site]
Although a combination of these malformations superficially resembles that of sponastrime dysplasia, several skeletal alterations including coxavalga with proximal femoral constriction, mild epiphyseal dysplasia of the long bones particularly in the[updoc.site]
Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontalbossing, and increased upper/lower segment ratio. Etiology of this condition is unknown.[ncbi.nlm.nih.gov]
Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontalbossing, and a depressed nasal root (summary by Cooper et al., 2000). (271510) MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also[malacards.org]
Craniofacial: large head, frontalbossing, epicanthal folds, midface hypoplasia, broad and anteverted “saddle” nose is characteristic, mild prognathism.[accessanesthesiology.mhmedical.com]
nose [ more ] 0003196 Spondyloepimetaphyseal dysplasia 0002651 30%-79% of people have these symptoms Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288[rarediseases.info.nih.gov]
Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayedboneage.[ncbi.nlm.nih.gov]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
Full text article available by contacting [email protected] Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.[lpamrs.memberclicks.net]
Relevant External Links for SEMA3A Genetic Association Database (GAD) SEMA3A Human Genome Epidemiology (HuGE) Navigator SEMA3A Atlas of Genetics and Cytogenetics in Oncology and Haematology: SEMA3A No data available for Genatlas for SEMA3A Gene The semaphorin[genecards.org]
Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous[findzebra.com]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] X-linked spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males[icdlist.com]
Management is aimed at maintaining mobility and preventing dislocations.[kundoc.com]