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11 Possible Causes for Pectus Excavatum in Males, Sloping Shoulders

  • Craniofrontonasal Dysplasia

    shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com] shoulders (sometimes associated with restricted movement); and in a small number of cases, mild learning difficulties, cleft lip, cleft palate and extra thumbs or big toes[headlines.org.uk]

  • Funnel Chest

    Other anatomic hallmarks of PE include sloped ribs, pot belly, and rounded shoulders, all of which become more prominent as the child grows older.[healio.com] -Pectus excavatum occurs more often in males than females (3:1) ,some studies say that this ratio reached 6:1 ,and accounts for 90% of congenital chest wall deformities.[doctorsgates.blogspot.com] Another name for pectus excavatum is funnel chest , and the condition is much more common in males than in females .[leading-medicine-guide.com]

  • Hypertelorism

    shoulder girdle deformity, and longitudinal ridging of nails in association with various truncal and extremity anomalies.[ncbi.nlm.nih.gov] excavatum (Cohen 1979).[rrnursingschool.biz] The second most common cause was craniofrontonasal dysplasia (n 18), a genetic syndrome comprising coronal synostosis, frontonasal anomalies, "frizzy" hair, narrow/sloping[ncbi.nlm.nih.gov]

  • Thoracic Outlet Syndrome

    Weak shoulder muscles, long necks and sloped shoulders, poor posture and obesity may contribute to thoracic outlet syndrome.[ccohs.ca] METHODS: A retrospective study including 85 pectus excavatum patients (58 males and 27 females) was conducted.[ncbi.nlm.nih.gov] Thoracic Outlet Syndrome patients display forward rotated shoulders that increases the slope of the first ribs, backwardly displacing the manubrium, posterior right and/or[tosinfo.com]

  • Oculo-Palato-Cerebral Syndrome

    Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2.[myslide.es] Skeletal anomalies include pectus excavatum , joint hyperlaxity and kyphoscoliosis.[orpha.net] The neck was long and thin, the shoulders sloping, and a pectus excavatum deformity was present. Moderate dorsal kyphosis with thoracolum- bar scoliosis were observed.[myslide.es]

  • Cap Myopathy

    shoulders Abnormality of the clavicle Atrioventricular block Abnormality of the humerus Abnormal aortic morphology Anomalous pulmonary venous return Aortic root aneurysm[mendelian.co] […] including pectus excavatum, elongated face and high-arched palate.[neurology.org] […] fibrillation Spasticity Kyphoscoliosis Sprengel anomaly Hypoplastic left heart Pes valgus Thoracic scoliosis Atrioventricular canal defect Aplasia/Hypoplasia of the radius Down-sloping[mendelian.co]

  • Bifid Nose

    Their shoulders slope downwards and their neck may also appear webbed.[gosh.nhs.uk] […] the male external genitalia were normal, and the neuromotor examination was adequate for age.[jpma.org.pk] Rounded and sloping shoulders, often rather narrow, were observed in 16/18.[nature.com]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    These may include a sideways and front-to-back curvature of the spine (kyphoscoliosis), narrow and/or sloping shoulders, underdeveloped collarbones (hypoplastic clavicles)[rarediseases.org] […] or female - short stature, webbed neck, pectus carinatum/excavatum, cubitus valgus - Right sided heart lesions: Pulmonic stenosis, ASD, hypertrophic cardiomyopathy - 25%[quizlet.com] […] dysplasia - AD inheritance - multiple cafe au lait spots - Crowe sign (axillary freckle like cafe au lait) - chr 12q, autosomal dominant (variable) - normal karyotypes - can be male[quizlet.com]

  • Spondyloepiphyseal Dysplasia tarda Type Kohn

    Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993).[rrnursingschool.biz] Scoliosis Kyphosis Lumbar lordosis Chest deformity Pectus excavatum unknown Pectus carinatum unknown Limbs Short Genu varum/valgum Normal mentation Inguinal hernia unknown[bmcpediatr.biomedcentral.com] Table 2 Phenotypic comparison of the six patients with “dappling” and “corner fracture” metaphyseal abnormalities Mutation Gender Nationality Physical examination Gly154Arg male[bmcpediatr.biomedcentral.com]

  • Mild Dysmorphic Features

    Also sloped shoulders, and pectoral muscles smaller than normal.[ssmc-tl.com] There was a slight pectus excavatum and hypoplasia of the pectorals muscle.[ssmc-tl.com] The father was normal. 20- CW-6 male/ prenatal AF de novo 48,XY, mar[11]/ 47,XY, mar[4] mar(20) n.a. see below {27} case 75 Advanced maternal age; positive maternal marker[ssmc-tl.com]

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