Possible Causes for pectus carinatum Marfan Syndrome […] deformities (ie, pectus excavatum and pectus carinatum ), and thoracolumbar scoliosis. [10, 11] In the cardiovascular system, aortic dilatation, aortic regurgitation, and [emedicine.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.com] Mucopolysaccharidosis 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] Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd9data.com] Mucopolysaccharidosis Type 4A He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. [semanticscholar.org] By the age of three, children may have developed considerable deformities like spinal curvature, pectus carinatum, and knock-knee. [symptoma.com] MPS-IVA commonly manifests in form of kyphosis or gibbus, scoliosis, pectus carinatum, genu valgum, gait disturbances and frequent falls, but the clinical presentation varies [symptoma.com] Osteogenesis Imperfecta 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 Pelvic and proximal femoral changes - Narrow pelvis, compression fractures, protrusio acetabuli, [20] and shepherd’s-crook deformities of the femurs Newborn has [emedicine.medscape.com] carinatum Pelvic and proximal femoral changes - Narrow pelvis, compression fractures, protrusio acetabuli, and shepherd's crook deformities of the femurs Densitometry - DEXA [doi.org] Mucopolysaccharidosis Type 4 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] King Syndrome 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 [ebi.ac.uk] We report a case of King's syndrome without the cryptorchidism and pectus carinatum associated with the syndrome. [ncbi.nlm.nih.gov] Mucopolysaccharidosis Type 2 Other findings showed pectus carinatum and transmitted breath sound with no cardiovascular anomaly. [amhsr.org] carinatum, kyphosis, scoliosis, genu valgum, hypermobile joints Waddling gait with frequent falls Qualitative urine glycosaminoglycan (GAG) analysis demonstrates keratan [centogene.com] 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] Mucopolysaccharidosis Type 6 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] Chest Wall Disorder 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] 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] 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] Legius Syndrome […] excavatum) or pushed out (pectus carinatum) Other symptoms may appear as the child grows. [kidshealth.org] Non-cutaneous features may include: Macrocephaly Unusual facial characteristics, similar to Noonan syndrome Short stature Pectus excavatum (sunken breastbone) or pectus carinatum [dermnetnz.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] Homocystinuria 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] Funnel Chest What is the cause of pectus carinatum? The cause of pectus carinatum is not known. [pedsurg.ucsf.edu] […] excavatum Ravitch Procedure for pectus carinatum How does chest wall bracing work? [childrens.com] 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] Turner Syndrome Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially[…] [ncbi.nlm.nih.gov] Rickets The sternum may project anteriorly and appear prominent (pectus carinatum or pigeon breast). [news-medical.net] 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] 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] Familial Pulmonary Arterial Hypertension The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. [ncbi.nlm.nih.gov] Spondylometaphyseal Dysplasia Type Kozlowski 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] Schwartz-Jampel Syndrome carinatum. [ncbi.nlm.nih.gov] 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] Other clinical features include mostly ophthalmological anomalies and a pectus carinatum. [accessanesthesiology.mhmedical.com] Coffin-Lowry Syndrome carinatum. [ncbi.nlm.nih.gov] Coffin Robert Brian Lowry A familial syndrome characterised by dwarfism and severe mental retardation, muscle weakness, unusual prominence of the breastbone (pectus carinatum [whonamedit.com] Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest). [medicinenet.com] Acro-Pectoral Syndrome […] 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] carinatum Pigeon chest 0000768 Pectus excavatum Funnel chest 0000767 Preaxial polydactyly 0100258 Triphalangeal thumb Finger-like thumb 0001199 Showing of 10 Last updated [rarediseases.info.nih.gov] Nemaline Myopathy Type 5 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] Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips; proximal contractures progressively weaken and a pectus carinatum develops [medical-dictionary.thefreedictionary.com] Hereditary Hyperphosphatasia We provide a 20 year follow-up of a family with three siblings affected by hereditary hyperphosphatasia (HH). An iliac crest bone biopsy was performed on one of the siblings following double-tetracycline labeling, with results reported quantitatively in a standard histomorphometric format. Biochemical parameters of[…] [ncbi.nlm.nih.gov] Autosomal Recessive Spastic Paraplegia Type 53 SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. [uniprot.org] Coxa Valga […] excavatum Pectus carinatum This article about a disease of musculoskeletal and connective tissue is a stub. [en.wikipedia.org] […] excavatum Pectus carinatum This article is issued from Wikipedia - version of the 8/4/2014. [ipfs.io] […] excavatum, Pectus carinatum) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome dactyly [wikidoc.org] Platyspondyly carinatum Abnormal joint morphology Flared metaphysis Barrel-shaped chest Severe short stature Flexion contracture Rare Symptoms - Less than 30% cases Spondylometaphyseal [mendelian.co] carinatum Hypoplastic pelvis Nevus Bruising susceptibility Multiple enchondromatosis Wormian bones Joint laxity Pes planus Osteoporosis Reduced bone mineral density Metaphyseal [mendelian.co] Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com] Thoracoplasty OBJECTIVES: For anterior protruding chest wall deformities treatment, mainly pectus carinatum, pediatric surgeons have been managing either orthotic methods or open surgical [ncbi.nlm.nih.gov] Sixty-six percent of the patients suffered from pectus excavatum, 34% from pectus carinatum. [ncbi.nlm.nih.gov] Pectus carinatum •Pectus carinatum is a disorder in which the sternum is protuberant. •Is less common than Pectus excavatum. [docsity.com] Noonan Syndrome 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] Disproportionate Short Stature - Ptosis - Valvular Heart Lesions 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] Bruck Syndrome We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. [ncbi.nlm.nih.gov] Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ] 0002659 Inguinal hernia 0000023 Knee flexion contracture 0006380 Osteopenia 0000938 Pectus [rarediseases.info.nih.gov] carinatum Pigeon chest 0000768 Protrusio acetabuli 0003179 Vertebral wedging Wedge-shaped vertebrae 0008422 Showing of 25 Last updated: 5/1/2019 If you need medical advice [rarediseases.info.nih.gov] Arterial Tortuosity Syndrome […] excavatum) or protruding chest (pectus carinatum) Protrusion of organs through gaps in muscles (hernias) Elongation of the intestines or pouches called diverticula in the [rarediseases.info.nih.gov] […] protruding (pectus carinatum). [ghr.nlm.nih.gov] carinatum scoliosis talipes equinovarus joint laxity dolichostenomelia (unusually long limbs) cervical spine instability Other developmental delay environmental allergies [radiopaedia.org] Chudley-Rozdilsky Syndrome carinatum Pigeon chest 0000768 Tracheoesophageal fistula 0002575 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis [rarediseases.info.nih.gov] […] cardiovascular system morphology 0030680 Abnormality of the ribs Rib abnormalities 0000772 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Pectus [rarediseases.info.nih.gov]
