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Coxoauricular Syndrome


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.[wwww.unboundmedicine.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Her oldest daughter SI 020444 (IV-4) presented with manifestations of the Ullrich- Turner syndrome (Fig. 2B, F): reduced birth weight, unusual shortness of stature (even for persons affected with the syndrome), hypertelorism, antimongoloid slant of palpebral[docslide.com.br]
  • 6 1190 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6 1191 CNG290 Congenital Absence of Both Lower Leg and Foot 6 1192 HYP010 Hypermobility of Coccyx 6 1193 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome[malacards.org]
Hip Dislocation
  • . * [28425] References: Duca D. et al "A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal" Am J Med Genet. 1981;8(2):173[wellnessadvocate.com]
  • ., 2010). (615155) MalaCards based summary : Steel Syndrome, also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature, is related to dwarfism, proportionate, with hip dislocation and myelomeningocele.[malacards.org]
Joint Dislocation
  • dislocations, gPAPP type Chondrodysplasia-disorder of sex development syndrome Chondroectodermal dysplasia with night blindness Ciliopathies with major skeletal involvement Cleidocranial dysplasia Cleidocranial dysplasia and isolated cranial ossification[se-atlas.de]
  • PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 11 GRC002 Gracile Bone Dysplasia 29 12 P BNC003 Bone Cancer 58 13 OST159 Osteogenic Sarcoma 66 14 CRT002 Cartilage-Hair Hypoplasia 59 15 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint[malacards.org]
  • Dislocations, Gpapp Type OMIM:300863 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia OMIM:215250 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome OMIM:118670 Chondronectin OMIM[informatics.jax.org]
Antimongoloid Slant
  • Her oldest daughter SI 020444 (IV-4) presented with manifestations of the Ullrich- Turner syndrome (Fig. 2B, F): reduced birth weight, unusual shortness of stature (even for persons affected with the syndrome), hypertelorism, antimongoloid slant of palpebral[docslide.com.br]
Hearing Impairment
  • The mothers left ear was normal, but on the right (Fig. 6A), she had severe microtia was absence of the external auditory meatus and canal and corresponding hearing impairment.[docslide.com.br]
  • Impairment, Cleft Lip/Palate, and/or Mental Retardation; COB1 OMIM:120300 Coloboma of Macula OMIM:216800 Coloboma of Macula and Skeletal Anomalies OMIM:120400 Coloboma of Macula with Type B Brachydactyly OMIM:120430 Coloboma of Optic Nerve OMIM:617306[informatics.jax.org]
Hearing Impairment
  • The mothers left ear was normal, but on the right (Fig. 6A), she had severe microtia was absence of the external auditory meatus and canal and corresponding hearing impairment.[docslide.com.br]
  • Impairment, Cleft Lip/Palate, and/or Mental Retardation; COB1 OMIM:120300 Coloboma of Macula OMIM:216800 Coloboma of Macula and Skeletal Anomalies OMIM:120400 Coloboma of Macula with Type B Brachydactyly OMIM:120430 Coloboma of Optic Nerve OMIM:617306[informatics.jax.org]
Wide Neck
  • neck, shield-chest with widely spaced nipples, cubitus valgus, primary amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980.[docslide.com.br]
Widely Spaced Nipples
  • spaced nipples, cubitus valgus, primary amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980.[docslide.com.br]
Amenorrhea
  • […] reduced birth weight, unusual shortness of stature (even for persons affected with the syndrome), hypertelorism, antimongoloid slant of palpebral fissures, apparently short and wide neck, shield-chest with widely spaced nipples, cubitus valgus, primary amenorrhea[docslide.com.br]
Primary Amenorrhea
  • amenorrhea, lack of development of secondary sexual characteristics, Received for publication March 10, 1980; revision received September 22, 1980.[docslide.com.br]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment - Coxoauricular syndrome Not supplied. Resources - Coxoauricular syndrome Not supplied.[checkorphan.org]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • Jimd Reports 13: 91-99, 2013 Effect of ethylene glycol monomethyl ether on spermatogenesis, dominant lethality, and F1 abnormalities in the rat and the mouse after treatment of F0 males .[eurekamag.com]
  • The aim of this project was to review the literature and define clinical practice guidelines for the use of cytokines and growth factor agents for the prevention or treatment of oral mucositis induced by cancer chemotherapy or radiotherapy.[wwe.geoscience.net]

Prognosis

  • Prognosis - Coxoauricular syndrome Not supplied. Treatment - Coxoauricular syndrome Not supplied. Resources - Coxoauricular syndrome Not supplied.[checkorphan.org]
  • . , 2008: Factors Influencing Prognosis After Initial Inadequate Excision (IIE) for Soft Tissue Sarcoma . Purpose.[wwe.geoscience.net]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
Sex distribution
Age distribution

Pathophysiology

  • Platelet aggregation plays an important role in the pathophysiology of acute coronary syndrome (ACS). Aspirin is the most widely used antiplatelet agent and acts by inhibiting thromboxane A2-induced platelet activation.[wwe.geoscience.net]

Prevention

  • Prevention - Coxoauricular syndrome Not supplied.[checkorphan.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • In the body, it attaches to the iron ion Fe2 , preventing it from binding to hydrogen peroxide.[momentumhealth.net]
  • But it does not prevent pla... Van Geel, A.N.; Eggermont, A.M.M.; Hanssens, P.E.J.; Schmitz, P.I.M. , 2008: Factors Influencing Prognosis After Initial Inadequate Excision (IIE) for Soft Tissue Sarcoma . Purpose.[wwe.geoscience.net]

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