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]
Definition: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase ( IDURONIDASE ) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity[…]
[hon.ch]
COMPASSIONATE ALLOWANCE INFORMATION MPS II - HUNTER SYNDROME ALTERNATE NAMES Mucopolysaccharidosis type II; Iduronate sulfatase deficiency; MPS Disorder; MPS II; I2S Deficiency; Lysosomal Storage Disease – Mucopolysaccharidosis Type II DESCRIPTION MPS II – Hunter syndrome is a rare, inherited disease in which the[…]
[secure.ssa.gov]
This investigation reports the biochemical findings in a native-born Briton suffering from the adult form of fucosidosis. Alpha-L-fucosidase, alpha-L-iduronidase, and beta-D-galactosidase were studied in cultured fibroblast and leucocytes from the patient with fucosidosis, her maternal grandfather, and several normal[…]
[ncbi.nlm.nih.gov]
thorax with slender and horizontal ribs.
[orpha.net]
Short broad neck and thorax, prominent trapezii, winged scapulae, square shoulders, hyperlordosis and clinodactyly of the fifth finger are seen in some children.
[orpha.net]
[…] 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]
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]
Journal Article•DOI• TL;DR: An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance and it is believed she represents the fourth case of the Fryns macrocephalic syndrome. ...read moreread less Abstract: An adult female patient is[…]
[typeset.io]
@inproceedings{rsel2013AKS, title={A KLINEFELTER SYNDROME CASE WITH IRIS COLOBOMATA AND GLAUCOMA İRİS KOLOBOMU VE GLOKOMUN EŞLİK ETTİĞİ BİR KLİNEFELTER}, author={T{\"u}may {\"O}rsel and Sevgi Onat}, year={2013} } Tümay Örsel, Sevgi Onat Published 2013 In this study A Klinefelter syndrome case with iris[…]
[semanticscholar.org]
She had stocky build and broad thorax. Hands and feet were small with stubby fingers.
[ncbi.nlm.nih.gov]
[…] 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]
Feature A = Major B = Minor Facial Typical dysmorphology of the face Suggestive dysmorphology of the face Chest wall Pectus carinatum/excavatum Broad thorax Cardiac Hypertrophic
[news-medical.net]
The thorax is broad and the internipple distance is large. About 15% of patients develop thoracic scoliosis. The shoulders are often rounded with scapula alata.
[ojrd.biomedcentral.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]
Full size image Figure 2 Patient at 15 (a) and 17.5 (b) years showing facial dismorphism, short stature, broad thorax, sternum carinatum.
[ijponline.biomedcentral.com]
Chest wall Pectus carinatum/excavatum Broad thorax 5.
[aafp.org]
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 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]
Thorax is broad with slender and horizontal ribs. Pelvic bones are small, especially the pubis and the ischium.
[ncbi.nlm.nih.gov]
Thorax is broad with slender and horizontal ribs. Bone age is slightly delayed.
[nature.com]
Thorax is relatively broad with slender, horizontal ribs. Pelvic bones are small, especially the pubis and the ischium.
[ncbi.nlm.nih.gov]
Chest radiograph revealed a bell-shaped thorax with down-slanting broad ribs ( Fig. 3F ).
[ncbi.nlm.nih.gov]
[…] with down-slanting broad ribs.
[ncbi.nlm.nih.gov]
Lateral view of thoracolumbar spine showing posterior scalloping from L1–L5 and mild lower anterior beaking of L5 vertebra. ( F ) Chest radiograph showing bell-shaped thorax
[ncbi.nlm.nih.gov]
[…] 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]
thorax, unequal limb length, multiple enchondromata of flat and tubular bones with vertebral segmentation defects resulting in severe kyphoscoliosis.
[link.springer.com]
[…] mental retardation, with/without quadrupedal locomotion-1) AR 9q24 VLDLR Dysosteosclerosis AR Dysspondyloenchondromatosis: Short stature from birth, flat midface, short and broad
[link.springer.com]
Chest wall Pectus carinatum/excavatum Broad thorax 5.
[aafp.org]
Chestwall Pectuscarinatum/excavatum Broad thorax 5. Familyhistory First degree relative with definite NS First degree relative suggestive of NS 6.
[raredisorders.imedpub.com]
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]
[…] 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]
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]
[…] 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]
[…] 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]
· Kniest's dysplasia- Autosomal dominant kyphoscoliosis, short trunk, broad thorax. prognosis usually good.
[usdoc.co.il]
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]
Chest wall Pectus carinatum/excavatum Broad thorax 5.
[aafp.org]
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]
