Possible Causes for Broad Thorax Dyggve-Melchior-Clausen Syndrome Femora and humeri were shorter than usual and had broad proximal ends with medial spur of femora. [dev.docslide.net] […] pubic and ischial bones and lacy iliac crests; and short, wide thorax with sternal protru- sion and dysplastic ribs and scapulae. [dev.docslide.net] […] and inferior notches at the anterior end of all vertebral bodies and moderately hypoplastic odontoid process; dysplastic pelvis with short iliac bones, deformed acetabuli, broad [dev.docslide.net] Mucopolysaccharidosis Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops[…] [ncbi.nlm.nih.gov] Mucopolysaccharidosis Type 2 Abstract The lysosomal storage disorder mucopolysaccharidosis type II (MPS II) is caused by a deficiency in the activity of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). MPS II patients present within a spectrum of clinical phenotypes, which reflects the dynamic balance between the level of mutant protein,[…] [ncbi.nlm.nih.gov] Fucosidosis Return to The Medical Biochemistry Page © 1996–2019 themedicalbiochemistrypage.org, LLC | info @ themedicalbiochemistrypage.org Fucosidosis belongs to a family of disorders identified as lysosomal storage diseases. Fucosidosis is an autosomal recessive disorder that results from deficiencies in the fucosidase, alpha-L-1[…] [themedicalbiochemistrypage.org] Spondyloepiphyseal Dysplasia Tarda Published: August 1987 Spondyloepiphyseal dysplasia tarda with progressive arthropathy. A report of three cases A propos de trois observations International Orthopaedics volume 11, pages 271–275 (1987)Cite this article 52 Accesses 4 Citations Metrics details Summary Two brothers and a sister with spondyloepiphyseal[…] [link.springer.com] Macrocephaly Type Fryns Onat Syndrome Abstract Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up part of a multisystem disorder. Both parents, offspring of two full siblings, had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father[…] [ncbi.nlm.nih.gov] 3M Syndrome Type 1 thorax with slender and horizontal ribs. [orpha.net] […] neck and thorax, square shoulders, flared shoulder blades, unusual curving of the 5th finger, and prominent heels can be seen in some children. [4] [5] [6] In some cases, [en.wikipedia.org] […] radiological findings will be found, including slender/ 'gracile' long bones, relatively tall vertebral bodies, foreshortening of vertebral bodies, small pelvic bones and a broad [orpha.net] 3M Syndrome thorax with slender and horizontal ribs. [orpha.net] […] neck and thorax, square shoulders, flared shoulder blades, unusual curving of the 5th finger, and prominent heels can be seen in some children. [4] [5] [6] In some cases, [en.wikipedia.org] […] radiological findings will be found, including slender/ 'gracile' long bones, relatively tall vertebral bodies, foreshortening of vertebral bodies, small pelvic bones and a broad [orpha.net] Stickler Syndrome Type 1 The thorax was broad and short. The ilia appeared short and broad. [hindawi.com] In contrast, our patient showed a broad thorax and short fingers and toes [6]. [hindawi.com] 3M Syndrome Type 3 Short broad neck and thorax, prominent trapezii, winged scapulae, square shoulders, hyperlordosis and clinodactyly of the 5th finger are seen in some children. [orpha.net] […] neck and thorax, square shoulders, flared shoulder blades, unusual curving of the 5th finger, and prominent heels can be seen in some children.[6][4][8] In some cases, males [en.wikipedia.org] Thorax is broad with slender and horizontal ribs. Bone age is slightly delayed. [nature.com] Noonan Syndrome 3 Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org] Spondyloepimetaphyseal Dysplasia Type SPONASTRIME He also showed relative macrocephaly, slightly low set ears, a short neck, broad thorax, brachydactyly, hyperextensible joints, a genu valgum, and flat feet. [cags.org.ae] Noonan Syndrome Chestwall Pectuscarinatum/excavatum Broad thorax 5. Familyhistory First degree relative with definite NS First degree relative suggestive of NS 6. [raredisorders.imedpub.com] Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org] Marchesani-Weill Syndrome thorax [ 1 ]. [link.springer.com] […] hypoextendable joints or the fingers that cannot be fully made into fist) with joint prominence and stiffness especially in the hands, thickened skin, muscular build, and broad [link.springer.com] Mosaic Monosomy X thorax shield shaped thorax widely spaced nipples niple hypoplasia (hypoplastic nipples) axillary air absent aortic anomalies ( 12640386 ) aortic coarctation aortic cystic [humpath.com] […] craniofacial anomalies triangular face antimongoloid slant of palpebral fissures epicanthus ptosis highly arched palate manidbular hypoplasia retrognathia thoracic anomalies broad [humpath.com] Spondyloepiphyseal Dysplasia Type Byers […] manifestations Clinical criteria are: Manifestation between the ages of 6–12 years shortened trunk, short neck, disproportionate short stature moderately pronounced chest, broad [de.zxc.wiki] thorax, short arms Scoliosis, kyphosis, lumbar hyperlordosis Adult height at 125-57 cm decreased mobility in the hip joint and premature development of coxarthrosis and gonarthrosis [de.zxc.wiki] Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome · Kniest's dysplasia- Autosomal dominant kyphoscoliosis, short trunk, broad thorax. prognosis usually good. [usdoc.co.il] Blepharofacioskeletal Syndrome C : Broad thorax with mild carinatum. D : Long toes and abnormal shape of halux. F IG .3. [researchgate.net] There was maxillary hypoplasia with an underbite and broad mandibular rami. The thorax was long and narrow with short clavicles. [nature.com] She also had a broad thorax with a pectus carinatum, long and tapering fingers and toes, restriction of full finger extension, bilateral clinodac- tyly of the 4th and 5th fingers [researchgate.net] Mulibrey Nanism Syndrome Figure 2 Patient at 15 (a) and 17.5 (b) years showing facial dismorphism, short stature, broad thorax, sternum carinatum. [ijponline.biomedcentral.com] TRIM37 is responsible for various cellular functions including developmental patterning. [5] Characteristics A person with Mulibrey nanism has growth retardation, a short broad [ipfs.io] […] for various cellular functions including developmental patterning. [5] [6] [7] Signs/symptoms [ edit ] An individual with Mulibrey nanism has growth retardation, a short broad [en.wikipedia.org] Cardiomyopathy - Cataract - Hip Spine Disease Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org] Kniest Dysplasia thorax with sternal protrusion; short arms and legs with prominent joints and restricted joint mobility; cleft palate; hearing loss; occasional myopia; retinal detachment [whonamedit.com] A re-evaluation of the radiographic images taken at ages 4 and 28 years, demonstrated platyspondyly, reduced intervertebral space, bell shaped thorax, scoliosis, broad ilia [ojrd.biomedcentral.com] […] shallow orbits with protruding eyes; short trunk with dorsal kyphosis, lumbar lordosis, and, less frequently, thoracic scoliosis in the later course of the disease; short and broad [whonamedit.com] Disproportionate Short Stature - Ptosis - Valvular Heart Lesions Chestwall Pectuscarinatum/excavatum Broad thorax 5. Familyhistory First degree relative with definite NS First degree relative suggestive of NS 6. [raredisorders.imedpub.com] Skeletal Dysplasia - Intellectual Disability Syndrome Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org] […] nasal root mild hypertelorism everted prominent lower lip Thorax: growth long and narrow prominent manubrium [malacards.org] Radiographic features include gracile long bones, tall vertebral bodies that become foreshortened, small pelvic bones, and a broad thorax with thin ribs. [academic.oup.com] Congenital Scoliosis due to Bony Malformation thorax, a pectus carinatum, a short trunk, a genu valgum, and flat feet. [cags.org.ae] […] performed showing a head positioned in hyperextension, a mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad [cags.org.ae] Hypochondroplasia His clinical phenotype is characterised by macrocephaly with a prominent forehead, low nasal bridge, muscular build, and broad thorax. [jmg.bmj.com] Non-Syndromic Ocular Stickler Syndrome Type 1 The thorax was broad and short. The ilia appeared short and broad. [hindawi.com] Premature osteoarthritis Retinopathy Short neck Long fingers Kyphosis Spondyloepiphyseal dysplasia Bifid uvula Joint hypermobility Arachnodactyly Depressed nasal bridge Broad [mendelian.co] In contrast, our patient showed a broad thorax and short fingers and toes [6]. [hindawi.com] Spondyloepimetaphyseal Dysplasia Type Irapa Note the shortstature, the head positioned in hyperextension, hyperextensible wrists andfingers, brachydactyly, broad thorax, pectus carinatum, short trunk, genuvalgum, and [dokumen.tips] Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org] […] bridge, slightly angulated pointed tip and narrow inverted nostrils), low set ears, abnormal palmar creases, kyphoscoliosis, irregular form of the vertebrae, narrow thorax [chr7.org] […] nasal bridge, low-set ears, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger, abnormal palmar creases p22.1 p13 [chr7.org] Skeletal Dysplasia - Epilepsy - Short Stature Syndrome Chest wall Pectus carinatum/excavatum Broad thorax 5. [aafp.org]