Pectus Carinatum: Causes & Reasons

Possible Causes for Pectus Carinatum

[…] deformities (ie, pectus excavatum and pectus carinatum ), and thoracolumbar scoliosis. [10, 11] In the cardiovascular system, aortic dilatation, aortic regurgitation, and [emedicine.com]

carinatum or pectus excavatum), dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. [orpha.net]

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 Type 4A

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]

Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com]

He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. [semanticscholar.org]

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]

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]

Mucopolysaccharidosis Type 4

Morquio type B is characterized by a generalized skeletal dysplasia resulting in short stature, pectus carinatum (protrusion of the sternum), platyspodylia, scoliosis and [themedicalbiochemistrypage.org]

Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu [genedx.com]

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]

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]

We report a case of King's syndrome without the cryptorchidism and pectus carinatum associated with the syndrome. [jamanetwork.com]

carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the [orpha.net]

Homocystinuria

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]

carinatum, long extremities, arachnodactyly, and dilatation with thrombosis of medium sized arteries and veins. 3. [ajronline.org]

[…] and patients can present with any of the following: Marfanoid appearance (this refers to the tall, thin build and long-limbed appearance reminiscent of Marfan syndrome ) Pectus [dermnetnz.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]

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]

The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and ...Spondylometaphyseal dysplasia, Kozlowski [yvmckfbj.ga]

Rickets

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]

Mucopolysaccharidosis Type 2

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]

carinatum). [rarediseases.org]

Other findings showed pectus carinatum and transmitted breath sound with no cardiovascular anomaly. [amhsr.org]

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 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]

3M Syndrome Type 2

[…] 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]

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

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]

Non-cutaneous features may include: Macrocephaly Unusual facial characteristics, similar to Noonan syndrome Short stature Pectus excavatum (sunken breastbone) or pectus carinatum [dermnetnz.org]

Funnel Chest

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]

What is the cause of pectus carinatum? The cause of pectus carinatum is not known. [pedsurg.ucsf.edu]

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]

Turner Syndrome

Turner syndrome, first described in 1938 by Henry Turner, is as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema[…] [symptoma.com]

Schwartz-Jampel Syndrome

Other clinical features include mostly ophthalmological anomalies and a pectus carinatum. [accessanesthesiology.mhmedical.com]

carinatum, acetabular dysplasia, and coxa vara. [whonamedit.com]

carinatum. [ncbi.nlm.nih.gov]

Coffin-Lowry Syndrome

carinatum. [ncbi.nlm.nih.gov]

Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest). [medicinenet.com]

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]

Acro-Pectoral Syndrome

carinatum 30 HP:0000768 6 pectus excavatum 30 HP:0000767 7 abnormality of the thorax 58 Very frequent (99-80%) 8 triphalangeal thumb 30 HP:0001199 9 partial duplication of [malacards.org]

]　[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]

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]

Nemaline Myopathy Type 5

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]

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]

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]

Platyspondyly

Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com]

We report a brother and sister who have many of the features of the Morquio syndrome (short stature, corneal clouding, thoracic kyphosis, pectus carinatum, mild dysostosis [jhu.pure.elsevier.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]

Noonan Syndrome

carinatum and/or pectus excavatum, observed in 70% of cases. [reumatologiaclinica.org]

[…] excavatum pectus carinatum cardiopulmonary pulmonary stenosis (with dysplastic pulmonary valve): most common cardiac anomaly 3 hypertrophic cardiomyopathy 3,4: thought to [radiopaedia.org]

[…] 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]

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]

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]

Goldberg-Shprintzen Syndrome

For example, they may have arachnodactyly, unusually long limbs, pectus excavatum or pectus carinatum, and scoliosis. [ivami.com]

Affected individuals have pectus excavatum or pectus carinatum, scoliosis, and arachnodactyly. [preventiongenetics.com]

For example, they may have arachnodactyly, unusually long limbs, pectus excavatum or pectus carinatum and scoliosis. [ivami.com]

Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

[…] excavatum and pectus carinatum. [flipper.diff.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 (protruding chest) or inferior pectus excavatum (sunken chest) Low-set nipples Undescended testicles in males (cryptorchidism) and possible infertility Delayed [stjude.org]

Mucopolysaccharidosis Type 7

carinatum or exacavatum and oar-shaped ribs; also a protruding abdomen and inguinal or umbilical hernia in the extremities: talipes, an underdeveloped ilium, aseptic necrosis [en.wikipedia.org]

carinatum) misshapen arms and legs. ❓ What is Morquio A syndrome? [fi.health-root.com]

These bone deformities may include a prominent breast bone (pectus carinatum), flared ribs, frequent hip dislocations, “frozen” joints (contractures), club foot, and/or an [rarediseases.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 [rareendocrinologynews.com]

[…] cardiovascular system morphology 0030680 Abnormality of the ribs Rib abnormalities 0000772 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Pectus [rareendocrinologynews.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and [onlinelibrary.wiley.com]

[…] excavatum Joint contracture of the hand Dental malocclusion Cachexia Narrow mouth Cardiac arrest Inguinal hernia Hyperlordosis Long philtrum Pectus carinatum Epicanthus Lactic [mendelian.co]

carinatum Craniodiaphyseal dysplasia Spastic paraplegia 17 Autosomal dominant intermediate Charcot-Marie-Tooth RFT1-CDG (CDG-In) Boomerang dysplasia Reardon Wilson Cavanagh [checkrare.com]

Dyggve-Melchior-Clausen Syndrome

Clinical evaluation revealed that he had short stature, microcephaly and prominent pectus carinatum. [atm.amegroups.com]

Figure 1: The figure highlights the short neck, genu varum, pectus carinatum deformity of chest, knocked knees and overall short stature (105 cm) in a 15 years old boy Click [ijpm.info]

Physical examination also revealed other skeletal abnormalities, such as Genu Varum, flat spatulate hands, pectus carinatum, knocked knees, pes planus, and a bilateral overlapping [ijpm.info]