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468 Possible Causes for Abnormal Dentition, Epilepsy, Respiratory Disorders

  • Hypophosphatasia

    […] tooth formation loss of teeth Presentation Clinical findings presentation similar to rickets genu varum short stature abnormal dentition Imaging Radiographs recommended AP[orthobullets.com] ( Metabolic, Respiratory ) - Mixed disorder of acid-base balance - H 2 O Dehydration / Hypervolemia - K Hypokalemia / Hyperkalemia - Cl Hyperchloremia / Hypochloremia Purine[wikidoc.org] Treated Akp2 (-/-) mice grew normally till 4 weeks and appeared well with a minimum skeletal abnormality as well as absence of epilepsy, compared with untreated mice which[ncbi.nlm.nih.gov]

  • Sanjad-Sakati Syndrome

    respiratory infections, and constipation.[saudija.org] dentition and increased susceptibility to infection.[ncbi.nlm.nih.gov] It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye,[ncbi.nlm.nih.gov]

  • Lipoid Proteinosis

    In more severe cases, diffuse infiltration of the pharynx and larynx might cause respiratory distress, at times requiring tracheostomy.[ncbi.nlm.nih.gov] Associated findings include epilepsy, mild mental retardation, respiratory tract obstruction, abnormal dentition and ocular abnormalities.[medicaljournals.se] KEYWORDS: ECM1 gene mutation; epilepsy; ictal EEG; lipoid proteinosis; prognosis[ncbi.nlm.nih.gov]

  • Congenital Generalized Hypertrichosis

    This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] Children with this disorder often have recurrent respiratory tract infections and gastrointestinal upsets; seizures have been observed in about 20% of reported cases, and[en.tzermias.gr] This phenotype represents a unique combination of features, bridging the variable association of gingival overgrowth, generalized hypertrichosis, mental retardation or epilepsy[ncbi.nlm.nih.gov]

  • Kohlschütter-Tönz Syndrome

    […] of the dentition Flat occiput Postnatal microcephaly Microretrognathia Short nose Progressive neurologic deterioration Hypsarrhythmia Cerebellar vermis hypoplasia Broad thumb[mendelian.co] TY - JOUR T1 - Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.[wwww.unboundmedicine.com] Birgitta Bergendal, Johanna Norderyd, Xiaolei Zhou, Joakim Klar and Niklas Dahl, Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency[doi.org]

  • Tricho-Retino-Dento-Digital Syndrome

    […] of the dentition 59 Very frequent (99-80%) 10 abnormality of the hand 59 Frequent (79-30%) 11 hypospadias 32 HP:0000047 12 rod-cone dystrophy 32 HP:0000510 13 microdontia[malacards.org] […] chain disorder MRPS16 Atopy MS4A2 Acute lymphocytic leukaemia and cafe-au-lait spots MSH2 Colorectal / endometrial cancer MSH2 Gastric cancer MSH2 Colorectal cancer MSH2[springer.com] […] of the dentition 59 Very frequent (99-80%) 10 microdontia 32 HP:0000691 11 short toe 32 HP:0001831 12 hypospadias 32 HP:0000047 13 abnormality of the hand 59 Frequent (79[malacards.org]

  • Mandibulofacial Dysostosis

    Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory[ncbi.nlm.nih.gov] dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[eyewiki.aao.org] […] mesomelic dysplasia Rhizomelic dysplasia Patterson Lowry type RHYNS syndrome Rolland-Debuqois syndrome Schimke immuno-osseous dysplasia Sclerosteosis Skeletal dysplasia with epilepsy[icdlist.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Dentition Spondyloepimetaphyseal Dysplasia with Hypotrichosis Spondyloepimetaphyseal Dysplasia with Joint Laxity Spondyloepimetaphyseal Dysplasia with Multiple Dislocations[rgd.mcw.edu] […] nongoitrous hypothyroidism (CHNG) Thyroid dyshormonogenesis Thyroid hormone resistance syndrome Allan-Herndon-Dudley syndrome Choreoathetosis, hypothyroidism, and neonatal respiratory[csirnotes.com] Bartter syndrome with deafness Malignant migrating partial seizures of infancy Neuropathy with hearing impairment Oculodentodigital dysplasia Progressive myoclonic epilepsy[csbg.cnb.csic.es]

  • Wiedemann-Steiner Syndrome

    […] of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aggressive behavior Aggression Aggressive behaviour Aggressiveness[rarediseases.info.nih.gov] Respiratory disorders, hypertrichosis, and early death uniquely characterize the marshall-smith syndrome.[icd10data.com] Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels[ncbi.nlm.nih.gov]

  • Kabuki Syndrome

    Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal[ncbi.nlm.nih.gov] Anesthesiologists should be aware of possibly difficult tracheal intubation cardiac lesions, respiratory problems, neurological and musculoskeletal disorders, and a latex[ncbi.nlm.nih.gov] Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.[ncbi.nlm.nih.gov]

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