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710 Possible Causes for Dysmorphic Facies

  • Mucolipidosis

    […] features such as puffy eyelids and coarse facies were absent in our patient.[neurologyindia.com] The characteristic phenotype of children with ML-IV is marked by psychomotor delay, corneal clouding, optic atrophy, retinal dystrophy and squint. [1] , [2] Described dysmorphic[neurologyindia.com]

  • Congenital Disorder of Glycosylation Type 2J

    94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 Acquired Disorders Affecting the White Matter E-1725 101[…][books.google.com]

  • Facioauriculoradial Dysplasia

    […] dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) Journal of Medical Genetics 1982; 19: 110-115.[jmg.bmj.com] Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) A E Harding * , C M Hall † , M Baraitser †[jmg.bmj.com] @article{Harding1982AutosomalDA, title {Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).},[semanticscholar.org]

  • Ulnar Mammary Syndrome

    We report on a girl presenting with an UMS like phenotype, a dysmorphic facies, and mental retardation.[ncbi.nlm.nih.gov] In addition, a dysmorphic facies and a short neck were noted ( Figure 1 ). Family history was negative for similar conditions.[doi.org] facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.[genome.jp]

  • Donohue Syndrome

    Leprechaunism is clinically manifested by abnormal growth, dysmorphic facies along with abnormalities of the endocrine organs.[symptoma.com] Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities[profiles.umassmed.edu] Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies.[symptoma.com]

  • Cerebro-Facio-Articular Syndrome

    Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus[semanticscholar.org] Abstract Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus,[ncbi.nlm.nih.gov] facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity.[semanticscholar.org]

  • X-Linked Intellectual Disability Type Nascimento

    MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures.[uniprot.org]

  • Carpenter-Waziri Syndrome

    Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women.[malacards.org] All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed[malacards.org] XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies[malacards.org]

  • DiGeorge Syndrome

    Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features.[ncbi.nlm.nih.gov] She had congenital heart disease, dysmorphic facies, thymic hypoplasia, immunodeficiency, velopharyngeal insufficiency, scoliosis, and a hearing deficit.[ncbi.nlm.nih.gov] This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophageal reflux disease, scoliosis, reactive periostitis, and developmental[ncbi.nlm.nih.gov]

  • Fetal Hydantoin Syndrome

    facies, cleft palate and/or lip, and cardiac defects.[medical-dictionary.thefreedictionary.com] The abnormalities include disorders of growth and mental development, dysmorphic facies, and osteoarticular, cardiovascular, and other anomalies.[icd10data.com] Dysmorphic facies in Fetal Hydantoin Syndrome. 4. Fig. 2. Hypoplastic nails in Fetal Hydantoin SyndromeFig.3. Fetal Hydantoin SyndromeReferences:[1] Jones KL.[de.slideshare.net]

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