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162 Possible Causes for Brushfield Spots, Down Syndrome

  • Down Syndrome

    […] about Down syndrome.[cdc.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] 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[oadoi.org]

  • Duodenal Atresia

    The exception are those who have the relatively rare form of Down syndrome called mosaic Down syndrome, in which not all cells have an extra chromosome 21.[verywell.com] Abstract Congenital duodenal obstruction, a common complication of Down syndrome, most often presents as neonatal bilious vomiting.[ncbi.nlm.nih.gov] Analysis of a fetal blood sample showed that the fetus had Down's syndrome.[ncbi.nlm.nih.gov]

  • Partial Trisomy 21

    Abstract A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied.[ncbi.nlm.nih.gov] Brushfield spots may be observed in the iris.[symptoma.com] Last updated Sept. 13, 2017 The topic Partial Trisomy 21 Down Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Down[dovemed.com]

  • Ring Chromosome 21 Syndrome

    syndrome is presented.[springerlink.com] Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] spots) A short neck and a small head that's somewhat flat in the back (brachycephaly) A single crease across the palm of each hand (normally there are two), short stubby[verywell.com]

  • Ring Chromosome 21

    The patient has some Down syndrome characteristics including a high arched palate, a secundum atrial septal defect, and duodenal stenosis, but lacks the typical Down syndrome[ncbi.nlm.nih.gov] Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[publications.fondationlejeune.org]

  • Partial Trisomy 13 in Patau Syndrome

    See the separate Antenatal Screening for Down's Syndrome article for more details about second-trimester screening tests.[patient.info] Physical characteristics may include depressed nasal bridge, low-set ears, mouth-breathing and brushfield spots and bilateral epicanthal folds.[blog.geneticslab.emory.edu] Compared to Down syndrome, babies born with Trisomy 13 have a much lower survival rate, with an estimated 80% mortality in the first month of life alone.[actforlibraries.org]

  • Monosomy 21q

    These characteristics are within the limits of the variability of the phenotypic expression of Down syndrome, and in no case could the absence of a Down syndrome feature in[publications.fondationlejeune.org] […] tyrosine kinase involved in post-embryonic neurogenesis putatively involved in cell growth and development playing a role in controlling motor function and may be implicated in Down[genatlas.medecine.univ-paris5.fr] The most general is trisomy 21 (Down syndrome) or a trisomy of the sex chromosomes (XXX, XXY or XYY).[geogene.com]

  • Zellweger Syndrome

    syndrome is the most common Notes [ edit ] The information in this outline was last updated in 2002.[en.wikibooks.org] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] These latter symptoms, in association with the facial deformities, can lead to a diagnosis of Down syndrome.[themedicalbiochemistrypage.org]

  • Smith-Magenis Syndrome

    In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems.[ncbi.nlm.nih.gov] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[jmg.bmj.com] Abstract Everyday executive function (EF) was examined in Smith-Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated[ncbi.nlm.nih.gov]

  • Autosomal Dominant Mental Retardation 21

    Diabetes mellitus is an occasional feature of a range of genetic syndromes, of which Down's syndrome is the most frequently encountered in clinical practice.[diapedia.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu] syndrome patients with slanting (up or down) lid fissures and epicanthal folds.[disorders.eyes.arizona.edu]

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