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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[] ( Metabolic, Respiratory ) - Mixed disorder of acid-base balance - H 2 O Dehydration / Hypervolemia - K Hypokalemia / Hyperkalemia - Cl Hyperchloremia / Hypochloremia Purine[] 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[]

  • Sanjad-Sakati Syndrome

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

  • Lipoid Proteinosis

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

  • Congenital Generalized Hypertrichosis

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

  • Kohlschütter-Tönz Syndrome

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

  • 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[] […] chain disorder MRPS16 Atopy MS4A2 Acute lymphocytic leukaemia and cafe-au-lait spots MSH2 Colorectal / endometrial cancer MSH2 Gastric cancer MSH2 Colorectal cancer MSH2[] […] 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[]

  • 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[] dentition, choanal atresia and mandibular retrusion, external ear malformations and conductive hearing loss. [2] [3] Ocular findings in Treacher Collins syndrome include:[] […] mesomelic dysplasia Rhizomelic dysplasia Patterson Lowry type RHYNS syndrome Rolland-Debuqois syndrome Schimke immuno-osseous dysplasia Sclerosteosis Skeletal dysplasia with epilepsy[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

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

  • Wiedemann-Steiner Syndrome

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

  • 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[] Anesthesiologists should be aware of possibly difficult tracheal intubation cardiac lesions, respiratory problems, neurological and musculoskeletal disorders, and a latex[] Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities.[]

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