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]
Mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by the deficiency of enzymes needed for the stepwise breakdown of glycosaminoglycans (also known as mucopolysaccharides). During the last decades the enzyme deficiencies underlying each disease – as well as the molecular defects causing them –[…]
[news-medical.net]
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 NORD gratefully acknowledges Claude Abdallah, MD, MSc, Department of Anesthesiology, Children's National Medical Center, Assistant Professor of Anesthesiology and Pediatrics, The George Washington University Medical Center, for assistance in the preparation of this report. Synonyms of Fucosidosis[…]
[rarediseases.org]
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]
[…] nasal bridge, low set and dysplastic ears, cleft palate, micrognathia, short neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart
[jmg.bmj.com]
[…] forehead, frontal bossing, low-set ears with morphological abnormalities, hypertelorism, short neck, narrow thorax, wide intermamillary distance, and minor anomalies of the
[karger.com]
[…] features including growth retardation, failure to thrive, microcephaly, high and prominent forehead, prominent metopic suture, large anterior fontanelle, hypertelorism, broad
[jmg.bmj.com]
The hairline is normally mascu- line, and the face and the thorax display acneiform lesions with increased sebaceous secretion. The neck is short, broad, and webbed.
[docksci.com]
[…] of the 5th fingers Broad thumbs Short 2nd fingers Square finger tips and broad nails Metacarpal dimples Valgus knees Short feet Big first toes Overlapping of toes Muscular
[docksci.com]
The thorax is asymmetric with a depression on the left. The umbilicus is situated abnormally low. The pubic hair shows a feminine distribution.
[docksci.com]
Published: March 1984 Japanese Journal of Human Genetics volume 29, pages 39–43 (1984)Cite this article 154 Accesses 3 Citations Metrics details Summary A case of osteosarcoma arising in a 16-year-old boy with spondyloepiphyseal dysplasia tarda is described. The etiological interrelationship between these two[…]
[nature.com]
[…] eye Hypertelorism Proptosis Abnormality of the musculoskeletal system Abnormal calcification of the carpal bones Anterior rib cupping Atlantoaxial instability Bell-shaped thorax
[ncbi.nlm.nih.gov]
Broad long bones C1-C2 subluxation Elbow flexion contracture Epiphyseal stippling Flared iliac wing Flared metaphysis Frontal bossing Generalized hypotonia Genu varum Hypotonia
[ncbi.nlm.nih.gov]
Introduction Fryns syndrome (FRNS, %229850) is an autosomal recessive multiple congenital anomaly syndrome. It was reported first in 1979 in two siblings with numerous congenital anomaly, including coarse facies, diaphragmatic hernia, absence of lung lobulation, and distal limb deformities (Fryns and Van den Berghe,[…]
[frontiersin.org]
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]
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]
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]
Chest wall Pectus carinatum/excavatum Broad thorax 5.
[aafp.org]
[…] nasal bridge, low set and dysplastic ears, cleft palate, micrognathia, short neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart
[jmg.bmj.com]
[…] and abdomen CHD + Narrow thorax + + Ectopic anus + - + Musculoskeletal Small hands and small feet + Simian creases + Broad halluces + + *+, present; -, absent; NK, not known
[docksci.com]
[…] features including growth retardation, failure to thrive, microcephaly, high and prominent forehead, prominent metopic suture, large anterior fontanelle, hypertelorism, broad
[jmg.bmj.com]
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]
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]
Figure 2 Patient at 15 (a) and 17.5 (b) years showing facial dismorphism, short stature, broad thorax, sternum carinatum.
[ijponline.biomedcentral.com]
[…] neck, misshapen sternum, small thorax, square shoulders, enlarged liver, and yellowish dots in the ocular fundi.[1][7][8] Individuals with Mulibrey nanism have also been
[en.wikipedia.org]
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]
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]
[…] 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]
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]
[…] 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]
Chest X-ray revealed a narrow thorax with deformed thoracic cage and broad, flat anterior ribs.
[karger.com]
· Kniest's dysplasia- Autosomal dominant kyphoscoliosis, short trunk, broad thorax. prognosis usually good.
[usdoc.co.il]
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]
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]
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]
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]
retarded ossification of the pubic bones, and broad, short long bones.
[ncbi.nlm.nih.gov]
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]
MR findings were the presence of a conspicuous cartilaginous structure in the basioccipital region, ill-defined ossification of the cervical vertebral bodies, hypoplastic thorax
[ncbi.nlm.nih.gov]
Chestwall Pectuscarinatum/excavatum Broad thorax 5. Familyhistory First degree relative with definite NS First degree relative suggestive of NS 6.
[raredisorders.imedpub.com]
