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147 Possible Causes for Brushfield Spot, Hepatomegaly

  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[ncbi.nlm.nih.gov] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org]

  • Down Syndrome

    Ultrasound features indicative of TAM included hepatomegaly splenomegaly (79.5%), hydrops fetalis (30.8%), pericardial effusion (23.1%) and aberrant liquor volume (15.4%).[ncbi.nlm.nih.gov] 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.[medterms.com] Amongst these features, hepatomegaly, splenomegaly, pericardial/pleural effusions and skin rash are seen more frequently in neonates with TAM compared with neonates without[doi.org]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Synopsis hepatomegaly failure to thrive renal dysfunction recurrent infections Short stature Delayed puberty ’Doll-like’ facies Lipemia retinalis Hypertension Protuberant[humpath.com] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] More commonly though, infants of 3–4 months of age will manifest with hepatomegaly and hypoglycemic seizures.[themedicalbiochemistrypage.org]

  • Congenital Mandibular Hypoplasia

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.com] spots), 3 fontanelles with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals[quizlet.com] Increased distance between the intestinal loops 511 Intraabdominal cysts in children 512 Migratory peritoneal calcifications 514 Peritoneal pseudotumors 515 The Liver 1 Hepatomegaly[books.google.com]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[flashcardmachine.com] Abnormality of pelvic girdle bone morphology Autoimmunity Metaphyseal irregularity Camptodactyly of finger Coarse facial features Abnormality of the vertebral column Short neck Hepatomegaly[mendelian.co]

  • Autosomal Recessive Congenital Cataract 5

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] The mother noted bilateral leukocoria in the newborn period, and developmental retardation was apparent by several months of age when microcephaly as well as 3-cm hepatomegaly[healio.com] They include difficulty feeding, diarrhea, lethargy, hypotonia, jaundice, cataract, and hepatomegaly (enlarged liver).[en.wikipedia.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] defect in peroxisome formation Clinical features Characterized by presentation in the neonatal period with neonatal seizures and hypotonia Malformation of the face and head Hepatomegaly[amboss.com] Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com] Decreases of hepatomegaly, improved shoulder mobility, pulmonary function (forced vital capacity) and reduction of glycosaminoglycan excretion are observed.[clinicaladvisor.com]

  • Young Syndrome

    Abstract Attention is directed to the existence of a recently recognized syndrome in infants and young children with the prominent features of chronic eosinophilia, hepatomegaly[pediatrics.aappublications.org] spots (ring of iris speckles) 35 to 78 Short fifth finger 51 to 77 In-curved fifth finger 43 to 77 Short broad hands 38 to 75 High arched palate 59 to 74 Single palmar crease[aafp.org] , stenotic meatus) 28 to 91 Protruding tongue secondary to small, narrow palate 32 to 89 Flat nasal bridge 57 to 87 Muscular hypotonia 21 to 85 Epicanthal folds 28 to 79 Brushfield[aafp.org]

  • Isolated Congenital Sclerocornea

    MC also severe form- classic galactosemia by defect in Gal-1-PUT eliminate milk products -malnutrition, hepatomegaly, jaundice and retardation. peripheral circumferential[brainscape.com] spots, upslanting palpebral fissures, epicanthal folds/Most cases not inherited /Trisomy 21 (most cases), translocation, mosaic /#190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA[eyewiki.org] - Less than 30% cases Ataxia Short neck Splenomegaly Brachycephaly Thin vermilion border Short palm Hypothyroidism Hypertension EEG abnormality Pica Hypoplasia of penis Hepatomegaly[mendelian.co]

  • Infantile Choroidocerebral Calcification Syndrome

    […] skeletal system and Abnormality of the skin, related diseases and genetic alterations Autoimmunity and Abnormality of the dentition, related diseases and genetic alterations Hepatomegaly[mendelian.co] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[tsbvi.edu] Fetal hydrops and hepatomegaly are common. Neonates may demonstrate exanthema, rhinitis and hepatosplenomegaly.[mrineonatalbrain.com]

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