Cystitis
Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses.[ncbi.nlm.nih.gov]
[…] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia[ncbi.nlm.nih.gov]
Cystocele
Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses.[ncbi.nlm.nih.gov]
[…] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia[ncbi.nlm.nih.gov]
Coats Plus Syndrome
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive[…][ncbi.nlm.nih.gov]
Achondroplasia
Aus Wikimedia Commons, dem freien Medienarchiv Zur Navigation springen Zur Suche springen Achondroplasie Krankheit, Form der Kleinwüchsigkeit Medium hochladen Wikipedia Ist ein(e) Krankheit, Kleinwuchs Unterklasse von Skelettdysplasie Normdatei Q340594 BNCF-Thesaurus: 42773 Reasonator Scholia Statistik[…][commons.wikimedia.org]
Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome
neck Lumbar kyphosis Thoracolumbar kyphosis Broad phalanx Atlantoaxial instability Arthralgia of the hip Flattened femoral head Small forehead Milia Hyperkeratosis Hypoplasia[mendelian.co]
Abnormality of the ulna Epiphyseal stippling Abnormality of immune system physiology Elbow flexion contracture Thickened skin Aortic valve stenosis Macrotia Myelopathy Broad femoral[mendelian.co]
X-Linked Spondyloepimetaphyseal Dysplasia
Skeletal radiographs showed odontoid hypoplasia, atlantoaxial subluxation, scoliosis, kyphosis, lumbar lordosis and ovoid vertebral bodies, capital femoral epiphyses dysplasia[journals.plos.org]
, flattening of the acetabular roof, shortening of the femoral neck and base of the ilium, and delayed fusion of the pubic and ischial bones.[journals.plos.org]
Coxa Vara
Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses.[ncbi.nlm.nih.gov]
[…] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia[ncbi.nlm.nih.gov]
Anauxetic Dysplasia
(B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks.[jmg.bmj.com]
Coxa Valga
Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses.[ncbi.nlm.nih.gov]
[…] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia[ncbi.nlm.nih.gov]
Skeletal Dysplasia
The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum[ncbi.nlm.nih.gov]