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1,280 Possible Causes for De Novo Mutation Identified in Some Patients, Delayed Eruption of Primary and Secondary Teeth, Dysmorphic Face

  • SHORT Syndrome

    The eruption of primary and secondary teeth may be delayed for up to 1.3 years in children with growth hormone deficiency, up to 1.5 years in children with CDGP and more than[patient.info] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov] Fig. 1 Dysmorphic features (triangular-shaped face with prominent forehead and deeply-set eyes) Fig. 2 Dysmorphic features and body silhouette - front view Fig. 3 Lipodystrophy[ijponline.biomedcentral.com]

  • Cleidocranial Dysplasia

    […] shedding of primary teeth and also eruption of secondary teeth.[ncbi.nlm.nih.gov] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] (hyperdontia) in the primary and secondary dentition resulting in crowding and malocclusion, retention of deciduous teeth, delayed eruption of secondary dentition and failure[orpha.net]

    Missing: De Novo Mutation Identified in Some Patients
  • Klinefelter Syndrome

    Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Hypogonadism gynecomastia and infertility are the most common symptoms that suggest a[…][symptoma.com]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Marfan Syndrome

    The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. The defect in the connective tissue protein can lead to several organ dysfunctions. For the life expectancy, the cardiovascular aspect is of paramount importance. Patients with Marfan[…][ncbi.nlm.nih.gov]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Growth Hormone Deficiency

    Abstract Growth hormone deficiency (GHD) diagnosed in childhood may persist into adult life. After attainment of final height, retesting of the patient's growth hormone-insulin-like growth factor (GH-IGF) axis using the adult GHD diagnostic criteria should be performed after an appropriate interval of 1-3 months off[…][ncbi.nlm.nih.gov]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Laron Syndrome

    The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[dermatologyadvisor.com] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[ncbi.nlm.nih.gov]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth
  • Congenital Muscular Dystrophy

    In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] Other common features include hydrocephalus and dysmorphic face (short nasal bridge, micrognathia, and midface hypoplasia) 184.[doi.org] A few years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia[doi.org]

    Missing: De Novo Mutation Identified in Some Patients Delayed Eruption of Primary and Secondary Teeth