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943 Possible Causes for Developmental Delay, Mental Retardation, Round Face

  • Mucopolysaccharidosis 2

    delay, and intellectual disability.[] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[]

  • Mucopolysaccharidosis

    He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.[] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[] Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death[]

  • Mucopolysaccharidosis 1

    Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] Developmental delay may plateau, but then the child’s developmental skills may regress.[]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] delays, variable degrees of mental retardation or functional retardation, short stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can[] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[]

  • Trisomy 12p

    Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures.[] delay.[] We present a clinical and molecular cytogenetic characterization of a 4-year-old mentally retarded girl with macrosomy, facial dysmorphisms, and epilepsy, in whom an unbalanced[]

  • Chromosome 18p Deletion Syndrome

    Features that often occur in people with chromosome 18p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[]

  • Pseudohypoparathyroidism

    She has a history of developmental delays and seizure disorder.[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[] The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[]

  • Congenital Muscular Dystrophy

    Core clinical phenotype included global developmental delay prominent in gross-motor and language domains, severe intellectual disability (ID), and/or muscle weakness in all[] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[] We describe a patient affected with muscle weakness, psychomotor developmental delay and normal brain MRI.[]

  • Cri Du Chat Syndrome

    delay.[] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[] retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype.[]

  • Aarskog-Scott Syndrome

    His mother had minor abnormalities of the hands and feet, and slight mental retardation.[] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[]

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