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947 Possible Causes for Dysmorphic Facies

  • Mucolipidosis

    […] features such as puffy eyelids and coarse facies were absent in our patient.[] 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[]

  • Ulnar Mammary Syndrome

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

  • Facioauriculoradial Dysplasia

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

  • Blepharofacioskeletal Syndrome

    […] disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.EpidemiologySRS[] Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males.[] facies, and hypospadias in males.[]

  • Donohue Syndrome

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

  • Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

    Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies[] Developmental retardation with unusual facies, arthritis,and hearing impairment. Dysmorph Clin Genet 4:103109.CoroneoMT, Chui JJY. 2013.[]

  • Fetal Hydantoin Syndrome

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

  • Postaxial Oligodactyly, Tetramelic

    Hanhart Syndrome Heart Defects Limb Shortening hypochondroplasia Hypoglossia-Hypodactylia Ichthyosis Tapered Fingers Midline Groove Up INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC[] There is a known association with dysmorphic facies (small nose, micrognathia, and cleft palate) called the femoral hypoplasia-unusual facies syndrome (134780).[] Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism[]

  • Kenny-Caffey Syndrome Type 1

    facies, characteristic bone changes and mild mental retardation.[] […] characteristics in 1976;[ 4 ] Lee detailed the facial features in 1983.[ 5 ] We are presenting the case of 7-month-old girl with refractory failure to thrive hypoparathyrodism, dysmorphic[]

  • Atelosteogenesis

    Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.[] Atelosteogenesis III (AOIII, incomplete ossification) is a short Limb skeletal dysplasia, with dysmorphic facies and Diagnostic radiographic findings.[] OLS Orphanet Rare Disease Ontolog ORDO Orphanet:56305 Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic[]

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