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246 Possible Causes for Absent Liver Peroxisomes, Brushfield Spot

  • Zellweger Syndrome

    liver peroxisomes Age of Onset, Natural History, Life Span [ edit ] Most babies are born breech and exhibit failure to thrive.[] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[] Morphologically, peroxisomes were absent from liver.[]

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[] Results: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels[] These spots occur in normal children but are far more frequent in Down's syndrome (trisomy 21).[]

    Missing: Absent Liver Peroxisomes
  • High Myopia-Sensorineural Deafness Syndrome

    Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[] Ocular features include Brushfield's spots (small white spots on the periphery of the iris which are found sometimes in unaffected children).[]

    Missing: Absent Liver Peroxisomes
  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[]

    Missing: Absent Liver Peroxisomes
  • Spastic Paraparesis-Deafness Syndrome

    ) spots overlying the iris of the eye.[] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[] […] short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands with a single palmar crease and white (Brushfield[]

    Missing: Absent Liver Peroxisomes
  • Glassblower's Cataract

    spots[] (75%)- often symmetrical and develop in late childhood: varied morphology b. chronic blepharitis, myopia, strabismus, keratoconus, anomalous optic disc vasculature, iris Brushfield[]

    Missing: Absent Liver Peroxisomes
  • Peritonsillar Abscess

    […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[] […] joints between the bones of the skull (sutures) Single crease in the palm of the hand Small ears Small mouth Upward slanting eyes Wide, short hands with short fingers White spots[]

    Missing: Absent Liver Peroxisomes
  • Congenital Mandibular Hypoplasia

    spots), 3 fontanelles with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals[] […] with clinodactyly - Single transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield[]

    Missing: Absent Liver Peroxisomes
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, congenital cataracts , and some intellectual disabilities[] Langdon Down Syndrome In our body, the Downs Syndrome clinical manifestations include; hypotonia, short stature, brachycephaly, upslanting palpebral fissures , epicanthus, brushfield[]

    Missing: Absent Liver Peroxisomes
  • Isolated Congenital Sclerocornea

    spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[] REFERENCE DELLEMAN SYNDROME (OCULOCEREBROCUTANEOUS SYNDROME)/Anophthalmia, microphthalmia, eyelid coloboma, orbital cysts, nystagmus/Isolated cases/-/164180 DOWN SYNDROME/Iris brushfield[]

    Missing: Absent Liver Peroxisomes

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