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5 Possible Causes for Dihydroxyacetone Phosphate Acyltransferase Activity Decreased, High-Arched Palate (61%)

Did you mean: Dihydroxyacetone Phosphate Acyltransferase Activity Decreased, High-Arched Palate (61, )

  • Zellweger Syndrome

    palate 50% (4/8) 95% (35/37) present abnormal ears 50% (4/8) 98% (39/40) present high forehead present 97% (58/60) present neonatal seizures no 92% (56/61) 95% (36/38) neuronal[dx.doi.org] […] mental retardation 86% (6/7) 100% (45/45) yes short upturned nose with low nasal bridge 75% (6/8) 100% (23/23) present micrognathia 63% (5/8) 100% (18/18) present Highly arched[dx.doi.org]

  • Moebius Syndrome

    palate (61%) tongue hypoplasia (77%), teeth defects (37%) Limb malformations Syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles[patient.info] 2 ] Associated abnormalities [ 1 ] Orofacial dysmorphism Micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched[patient.info]

    Missing: Dihydroxyacetone Phosphate Acyltransferase Activity Decreased
  • Autosomal Dominant Chondrodysplasia Punctata

    activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT), previously reported in CDPX2.[karger.com] On the other hand, steroid sulfatase, whose activity is deficient or decreased in X-linked ichthyosis and X-linked recessive chondrodysplasia punctata, has been reported to[karger.com] […] additional information: Abstract Background : We examined an 18-month-old girl with typical clinical features of X-linked dominant chondrodysplasia punctata (CDPX2) with decreased[karger.com]

    Missing: High-Arched Palate (61%)
  • Fragile X Syndrome

    The most frequent findings were inner canthal distance 3.5 cm (100%), macro-orchidism (81%), long and narrow face (77%), high arched palate (70%), avoidance of eye contact[scielo.br] (61%), prominent ears (54%), large ears (46%), hand calluses (38%) and hyperactivity (38%).[scielo.br]

    Missing: Dihydroxyacetone Phosphate Acyltransferase Activity Decreased
  • Mandibuloacral Dysostosis

    Intraorally multiple retained deciduous teeth were present and 51, 54, 61 and 85 were carious. High arched palate.[jiaomr.in]

    Missing: Dihydroxyacetone Phosphate Acyltransferase Activity Decreased

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