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97 Possible Causes for Epicanthal Folds, Postural Defect

  • Homocystinuria

    The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov]

  • Cerebro-Oculo-Facio-Skeletal Syndrome

    […] of skin) in the neck, armpits, elbows or knees, expressionless face, ectropion, epicanthal folds, blepharophimosis, nasal hypoplasia, oral, nasopharynx, tongue, short neck[milyyjess.blogspot.com] It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] […] anesthetic by poor mouth opening. 19 Type 8 syndrome multiple pterygium with genetic heterogeneity (253290, 605203): They have the physical examination: joint pterygium (folds[milyyjess.blogspot.com]

  • Cutis Laxa

    Face revealed an antimongoloid slant, slightly everted nostril, prominent ears, epicanthic folds. The joints were normal.[slideshare.net] Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] There was palpebral down slant, bilateral epicanthal folds, blue sclera, flat nasal bridge, sagging cheeks and prominent ears.[e-ijd.org]

  • Pentasomy X

    She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation[ncbi.nlm.nih.gov] Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG.[scholars.northwestern.edu] folds [5] Short neck [5] Broad nose with a depressed nasal bridge [4] Hyperextension of the elbows [4] [5] Dental abnormalities and cleft palate [4] [5] Clinodactyly of the[en.wikipedia.org]

  • Congenital Fibrosis of Extraocular Muscles

    There was bilateral ptosis, epicanthal folds, hypertelorism and down-slanting palpebral fissures [Figure - 2] .[jpgmonline.com] Treatment or Management of the Condition There is a small number in patients with this disease that may not require surgery if there is no seriously defecting posture or if[wiki.ggc.usg.edu] Retinal or optic nerve diseases which cause altitudinal superior visual field defect are associated with chin-up posture to centralize the residual field with the body.[jpss.eu]

  • Noonan Syndrome 1

    ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[mayomedicallaboratories.com] folds, high upper eyelid crease, and some limitation of ocular mobility most commonly of the levator.[disorders.eyes.arizona.edu]

  • Ectrodactyly

    Clinical manifestations included micrognathia, retrognathia, wormian bones, auditory canal stenosis, depressed nasal bridge, epicanthal fold, fullness of upper eyelid, long[ncbi.nlm.nih.gov] […] restriction of fetal movement (e.g., extrinsic or postural clubfoot), and multifactorial conditions (e.g., intrinsic clubfoot).[musculoskeletalkey.com] They may result from a variety of causes including: teratogens, single-gene defects, chromosomal abnormalities, secondary destruction (e.g., amniotic band syndrome), mechanical[musculoskeletalkey.com]

  • Congenital Ptosis

    Asian upper eyelids have a characteristic fullness and an absent or less pronounced eyelid crease, or prominent epicanthal folds than Western children [ 7 ].[bmcophthalmol.biomedcentral.com] […] related to the defect while socialising with other kids All the photographs and videos have been made by Dr.[oculoplastica.it] This might be due to anatomical morphometrical differences in Korean children, including more puffy eyelids and a more prominent epicanthal fold than Western children.[bmcophthalmol.biomedcentral.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and[orpha.net] Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[fetalultrasound.com] […] covering the inner corner of the eyes ( epicanthal folds ), a small jaw , and low-set ears.[ghr.nlm.nih.gov]

  • Lethal Multiple Pterygium Syndrome

    Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and[orpha.net] Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[fetalultrasound.com] Facial anomalies (hypertelorism, flattened nose, micrognathia, low set ears and epicanthic folds). Head (brachycephaly with soft bones). Spine (scoliosis may occur).[fetalultrasound.com]

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