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48 Possible Causes for Ear Deformity, Folded Helix, Ventricular Septal Defect

  • Down Syndrome

    CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common.[ncbi.nlm.nih.gov] We present a case of transposition of the great arteries, ventricular septal defect, and pulmonary stenosis in a patient with trisomy 21.[ncbi.nlm.nih.gov] Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought[ncbi.nlm.nih.gov]

  • Congenital Contractural Arachnodactyly

    A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic[ncbi.nlm.nih.gov] Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[ncbi.nlm.nih.gov] " deformity.[ncbi.nlm.nih.gov]

  • Microtia

    In our patients, although there were no cases complicated by anomalies in the kidney and spine, there were some children complicated by esophageal atresia, ventricular septal[intechopen.com] […] or crus of the anthelix that extends from the superior portion of the anthelix to the upper posterior aspect of the corner of the helix.[btb.termiumplus.gc.ca] Microtia and Other Ear Deformities Congenital ear deformities occur in many different syndromes or alone.[cranioutah.com]

  • Noonan Syndrome

    Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.[ncbi.nlm.nih.gov] […] of the ear, incomplete folding of the ears Small, upturned nose Small jaw, crowding of the lower teeth Deeply grooved philtrum (top lip line), high arched palate Excess skin[dovemed.com] Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.com]

  • Anotia

    Following are the symptoms of anotia: Congenital heartdefect Facial weakness Absent or Very small ears Incapacity to close the eyes Ventricular septal defect While crying,[natural-health-news.com] […] is the folded over outside edge of the ear Intertragal notch is the space between the tragus and antitragus Lobe (lobule) may be attached or free, based on genetics Scapha[craniofacialteamtexas.com] Congenital Ear Deformity Correction Policy Treatment for Congenital Ear Deformity correction is not routinely funded by the CCG and is subject to this restricted policy.[bristolccg.nhs.uk]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    defect ASD, ventricular septal defect VSD, patent ductus arterious PDA or TOF, especially if there is pulmonary atresia.[pharmaexpress.net] (outer rim) of ear (over 90%) Incomplete folding of ears Chronic otitis media (ear infections) Hearing loss Mouth and speech [ edit ] Deeply grooved philtrum (top lip line[en.wikipedia.org] Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus.[whonamedit.com]

  • CHARGE Syndrome

    This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation[ncbi.nlm.nih.gov] & Feeding 70%-90% VII – Facial palsy (one side or both) Images of Facial Palsy 40% Factsheet about CHARGE Outer Ear Short, wide ear with little or no lobe, “snipped off” helix[chargesyndrome.org] Most patients have some deformities of the ear, such as asymmetric ears, small or absent earlobes, malformed middle ear bones, malformed cochleae, and small or absent semicircular[medschool.lsuhsc.edu]

  • External Auditory Canal Aplasia/Hypoplasia

    Defect ; 20.2 Atrioventricular Septal Defect ; 20.3 Ventricular Septal Defect ; 20.4 Left Ventricular Outflow Obstruction ; 20.5 Right Outflow Tract Obstruction ; 20.6 Conotruncal[amazon.de] - 6.7.3 Over-folded ear helix, lop ear Xxx XXX This LDD category comprises two different entities.Lop ears (HP:0000394) and Overfolded helices (HP:0000396) 6.7.4 Pits of[compbio.charite.de] deformity), Ms Rebecca Stockwell from The University of Queensland for her research into the spread of airborne diseases in hospitals through coughing, Mr Eric Wu from The[medical-dictionary.thefreedictionary.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    septal defect).[hawaii.edu] The main distinctive facial features are: -hypertelorism -ptosis -epicanthal folds -downslanted palpebral fissures -broad, high forehead -Low-set, posteriorly rotated ears[flipper.diff.org] […] diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis , bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum , low-set ear[en.wikipedia.org]

  • Wolf Hirschhorn Syndrome

    The patient had a small ventricular septal defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings.[ncbi.nlm.nih.gov] […] tightly folded around proteins called histones.[medical-dictionary.thefreedictionary.com] […] features which include prominent glabella, hypertelorism, (‘Greek helmet appearance’) micrognathia, highly arched eyebrows, down-turned ‘carp’ mouth and simple, lobeless ears[academic.oup.com]

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