[…] deformities (ie, pectus excavatum and pectus carinatum ), and thoracolumbar scoliosis. [10, 11] In the cardiovascular system, aortic dilatation, aortic regurgitation, and
[emedicine.medscape.com]
Anesthetic management is vital for the improvement on perioperative morbidity. 61-year-old male with MFS, presenting mainly with pectus carinatum, scoliosis, ectopia lens,
[ncbi.nlm.nih.gov]
In one study, the physical examination features with the highest diagnostic yield were as follows [14] : Craniofacial characteristics Thumb and wrist signs Pectus carinatum
[emedicine.medscape.com]
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
[icd10data.com]
Pectus carinatum (horizontal and protuberant sternum) and a shortened neck with clouding of the cornea, ligamentous laxity, and joint stiffness are also seen.
[cjhr.org]
He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity.
[semanticscholar.org]
He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back.
[ncbi.nlm.nih.gov]
The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis
[ncbi.nlm.nih.gov]
Pectus carinatum (horizontal and protuberant sternum) and a shortened neck with clouding of the cornea, ligamentous laxity and joint stiffness are also seen.
[sajr.org.za]
The chest is pigeon-shaped (pectus carinatum). There is joint laxity and knock knees (genu valgum) and hip deformity (dysplasia). The intelligence is normal.
[medicinenet.com]
carinatum) as well as bell shaped chest.
[centogene.com]
Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows.
[orpha.net]
In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and
[ncbi.nlm.nih.gov]
carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the
[orpha.net]
[…] fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus
[orpha.net]
carinatum, long extremities, arachnodactyly, and dilatation with thrombosis of medium sized arteries and veins. 3.
[ajronline.org]
carinatum or pectus excavatum (the depression of protrusion of the sternum) High, arched palate with crowding of the teeth Kyphoscoliosis Ectopic lentis (dislocation of the
[dermnetnz.org]
[…] ectopia lentis (100 per cent), mental retardation 73 per cent), and skeletal abnormalities suggesting the Marfan syndrome (35 per cent), such as kyphoscoliosis, genu valgum, pectus
[ajronline.org]
Major skeletal abnormalities include hypoplastic bones, hip dysplasia, pectus carinatum, genu valgum, and kyphoscoliosis.
[symptoma.com]
Dwarfism with pectus carinatum and kyphosis is present. Children have frequent upper respiratory tract infections. Many develop corneal clouding.
[emedicine.medscape.com]
[symptoma.com] Additional skeletal malformations may include a prominent breastbone (pectus carinatum), abnormal curvature of the spine, and knock-knees ( genu valgum ).
[symptoma.com]
It is characterized by short stature (130 to 150 cm), pectus carinatum, limited elbow and hip movement, mild bowleg deformity, and curvature of the spinal column.
[ncbi.nlm.nih.gov]
carinatum Pigeon chest 0000768 Scoliosis 0002650 Short neck Decreased length of neck 0000470 5%-29% of people have these symptoms Abnormality of epiphysis morphology Abnormal
[rarediseases.info.nih.gov]
Round back [ more ] 0002808 Limitation of joint mobility Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ] 0001376 Pectus
[rarediseases.info.nih.gov]
The sternum may project anteriorly and appear prominent (pectus carinatum or pigeon breast).
[news-medical.net]
carinatum; - indentation of lower part of the rib cage, at the insertion of diaphragm, is referred to as Harrison groove. - the resultant deformities may cause a "pot belly
[wheelessonline.com]
Muscle traction on the softened ribcage is responsible for the chest deformation, leading to pectus carinatum, thoracic asymmetry, and widening of the thoracic base.
[jci.org]
Other findings showed pectus carinatum and transmitted breath sound with no cardiovascular anomaly.
[amhsr.org]
Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis
[novapublishers.org]
Other features include pectus carinatum, pectus excavatum, and moderate-to-severe osteoporosis by DEXA. Type X Severe deformities and blue sclera are seen.
[doi.org]
carinatum Pigeon chest 0000768 Prominent occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Thin ribs Slender ribs 0000883 30%-79% of people have
[rarediseases.info.nih.gov]
carinatum Pelvic and proximal femoral changes - Narrow pelvis, compression fractures, protrusio acetabuli, and shepherd's crook deformities of the femurs Densitometry - DEXA
[doi.org]
[…] or unusually prominent (pectus carinatum).
[rarediseases.org]
Due to abnormalities of the elongated bone forming the middle portion of the chest (sternum), the chest may be abnormally short and/or may appear sunken (pectus excavatum)
[rarediseases.org]
Pectus carinatum Other names Pigeon chest, pectus cavernatum, bird chest, convex chest Severe case of pectus carinatum Specialty Orthopedics Pectus carinatum, also called
[en.wikipedia.org]
Pectus Carinatum (A chest wall deformity) Often called "pigeon breast," pectus carinatum is when the breastbone (sternum) looks like it is pushed out.
[cincinnatichildrens.org]
Congenital deformities of the thoracic cage, which do not have important effects on ventilatory apparatus (e.g. pectus excavatum and pectus carinatum), were also considered
[ncbi.nlm.nih.gov]
carinatum or pectus excavatum ), a variable degree of intellectual disability (30%), neurosensorial hearing loss, skeletal abnormalities, and cryptorchidism in men.
[admerahealth.com]
[…] excavatum) or pushed out (pectus carinatum) Other symptoms may appear as the child grows.
[kidshealth.org]
I do have noonan features (low set slightly tilted ears, downward eyes) my sister has pectus carinatum as well as low set ears.
[inspire.com]
What is the cause of pectus carinatum? The cause of pectus carinatum is not known.
[pedsurg.ucsf.edu]
The morphological features of the patients were five (8.6%) symmetric pectus carinatum, 11 (18.9%) asymmetric pectus carinatum, and 42 (72.4%) pectus carinatum/excavatum complex
[annalscts.com]
More information about the treatment of pectus excavatum, pectus carinatum and pectus arcuatum can be found by visiting the Multidisciplinary Chest Wall Disease Management
[ucdenver.edu]
History Patients with Turner syndrome may present with a cystic hygroma on a fetal ultrasound [8] or may have swollen hands and feet owing to lymphedema at birth. Children usually present with short stature, but some girls younger than 11 years have heights within the normal range for girls without Turner[…]
[emedicine.medscape.com]
Other clinical features include mostly ophthalmological anomalies and a pectus carinatum.
[accessanesthesiology.mhmedical.com]
Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated
[ncbi.nlm.nih.gov]
Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest).
[medicinenet.com]
Skeletal changes include kyphosis / scoliosis and pectus carinatum (pigeon breast ) or pectus excavatum (caved-in chest).
[medicinenet.com]
[…] excavatum 33 HP:0000767 6 pectus carinatum 33 HP:0000768 7 triphalangeal thumb 33 HP:0001199 8 partial duplication of thumb phalanx 33 HP:0009944 9 preaxial polydactyly 33
[malacards.org]
In addition, 14 had a sternal abnormality, consisting of a pectus carinatum deformity of the upper sternum and/or a pectus excavatum deformity of the lower sternum, producing
[monsterologist.blogspot.com]
] [15510] (UR-DBMS) 【一般】精神遅滞, 中等度 (1例で) Thorax: Pectus carinatum Pectus excavatum 【四肢】軸前性多指趾症 二分母指 三指節母指 皮膚性合指症 (全指趾) (1家系) 【その他】多様は表現型 F 症候群 (102510) が症状のオーバーラップあり 2
[syndromefinder.ncchd.go.jp]
Progressive worsening of the proximal contractures, weakness, and a pectus carinatum deformity develop before the children die of respiratory insufficiency, usually in the
[unboundmedicine.com]
SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.
[uniprot.org]
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
[icd10data.com]
[…] dwarfism is established by age of 2 or 3 and progresses; - inherited as autosomal recessive trait; - children have normal intelligence and survive well into adulthood; - pectus
[wheelessonline.com]
carinatum Abnormal joint morphology Flared metaphysis Barrel-shaped chest Severe short stature Flexion contracture Rare Symptoms - Less than 30% cases Spondylometaphyseal
[mendelian.co]
carinatum Pigeon chest 0000768 Pectus excavatum Funnel chest 0000767 Proptosis Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ] 0000520
[rarediseases.info.nih.gov]
It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities
[ncbi.nlm.nih.gov]
Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),
[ncbi.nlm.nih.gov]
Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia
[icd9data.com]
[…] excavatum or pectus carinatum (up to 90% have both, usually pectus carinatum superiorly and pectus excavatum inferiorly) Scoliosis As patients age, facial shape becomes increasingly
[pedclerk.bsd.uchicago.edu]
Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects
[raredisorders.imedpub.com]
For example, they may have long, slender fingers (arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and an abnormal
[encyclopedia.pub]
Affected individuals have pectus excavatum or pectus carinatum, scoliosis, and arachnodactyly.
[preventiongenetics.com]
[…] excavatum and pectus carinatum.
[flipper.diff.org]
carinatum (protruding chest) or inferior pectus excavatum (sunken chest) Low-set nipples Undescended testicles in males (cryptorchidism) and possible infertility Delayed
[stjude.org]
carinatum (protruding chest), inferior pectus excavatum (sunken chest) Low-set nipples Cryptorchidism in males (undescended testicles) Characteristic facial features Low-set
[chop.edu]
carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses.
[uniprot.org]
carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[orpha.net]
carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated Genes COL2A1 (Withdrawn symbols
[mousephenotype.org]
The facial dysmorphism included hypoplasia of nasal bridge, laryngomalacia, pectus carinatum, congenital heart defects (atrial septal defect and patent ductus arteriosus),
[ncbi.nlm.nih.gov]
Associated conditions include hypoplasia of nasal bridge, laryngomalacia, pectus carinatum, congenital heart defects, ventriculomegaly, agenesis of the corpus callosum, stippled
[definitions.net]
The facial dysmorphism included hypoplasia of nasal bridge, laryngomalacia,pectus carinatum, congenital heart defects (atrial septal defect and patent ductus arteriosus),ventriculomegaly
[oalib.com]
Category Subcategory Feature Chest External Features Pectus carinatum Barrel-shaped chest Growth Height Short stature Head And Neck Face Midface hypoplasia [ EoM Image ] Further
[mnglabs.com]
carinatum Pigeon chest 0000768 Percent of people who have these symptoms is not available through HPO Absent styloid process of ulna 0005068 Acetabular spurs 0010454 Autosomal
[rarediseases.info.nih.gov]
Other musculoskeletal abnormalities observed in CCA include scoliosis, kyphoscoliosis, pectus carinatum, a high arched palate, hypoplastic muscles, generalized osteoporosis
[symptoma.com]
The muscles are usually underdeveloped and kyphoscoliosis (a rounded, curved back) and pectus carinatum (a protruding chest) are also present.
[luriechildrens.org]
