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122 Possible Causes for Mongoloid Slant

  • Kaufman Oculocerebrofacial Syndrome

    Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[] slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible. * [19461] References: Kaufman[] slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds[]

  • Wolcott-Rallison Syndrome

    The full text of this article hosted at is unavailable due to technical difficulties. Short Report First published: 20 May 2008 Communicating editor: Georg Hoffmann JIMD Short Report #106 (2008) Online Competing interests: None declared References to electronic databases: Wolcott‐Rallison syndrome[…][]

  • Down Syndrome

    In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[]

  • Alagille Syndrome

    Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight[]

  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctive facial gestalt. Although the overlapping phenotype of microcephaly, epilepsy,[…][]

  • Atkin Syndrome

    Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes[…][]

  • Blepharofacioskeletal Syndrome

    We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. ß 2008 Wiley-Liss, Inc.[…][]

  • Zellweger Syndrome

    From Wikidata Jump to navigation Jump to search congenital disorder of nervous system cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder ZS edit English Zellweger syndrome congenital disorder of nervous system cerebrohepatorenal syndrome congenital iron overload peroxisome[…][]

  • Miller Dieker Syndrome

    From Wikidata Jump to navigation Jump to search A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Miller-Dieker syndrome MDS Miller-Dieker lissencephaly syndrome Telomeric deletion[…][]

  • Wiedemann-Rautenstrauch Syndrome

    Report of a patient with consanguineous parents Abstract A 4-year-old girl is reported with a neonatally apparent progeroid syndrome. Parental consanguinity indicates autosomal recessive inheritance. Psychomotor development and physical growth are severely deficient. Mainly characterized by congenital absence of[…][]

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