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671 Possible Causes for Anterior Fontanelle Open in Adults, Dysmorphic Face

  • Cleidocranial Dysplasia

    The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[] Physical examinations showed that he was short in stature (height, 164.4 cm; weight, 79.1 kg) with a dysmorphic face, including hypertelorism, midface hypoplasia, and chin[]

  • Pyknodysostosis

    Pyknodysostosis is a rare lysosomal storage disease that follows an autosomal recessive inheritance pattern. It typically involves multiple skeletal deformities, as well as dwarfism. Features can be observed both clinically and radiologically. Pyknodysostosis is a genetic disease that is inherited with an autosomal[…][]

  • 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[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Marfan Syndrome

    Cardiology. 2014;128(1):9-12. doi: 10.1159/000357265. Epub 2014 Feb 5. Author information 1 The Heart Institute, Cedars-Sinai Medical Center, Los Angeles, Calif., USA. Abstract Patients with Marfan syndrome are at risk for ascending aortic dilation and dissection at the level of the aortic sinuses, making aortic root and[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Patau Syndrome

    INTRODUCTION: Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated with a 25-50% prevalence of epilepsy, but detailed electroclinical descriptions are rare. The occurrence of early-onset photosensitivity has recently been reported in single patients. MATERIALS/PATIENTS: We collected[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Growth Hormone Deficiency

    Abstract Isolated growth hormone deficiency (IGHD) may result from deletions/mutations in either GH1 or GHRHR genes. The objective of this study was to characterize the molecular defect in a girl presenting IGHD. The patient was born at 41 weeks of gestation from non-consanguineous parents. Clinical and biochemical[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[]

    Missing: Anterior Fontanelle Open in Adults
  • Mucopolysaccharidosis

    Urology. 2017 Mar;101:163-165. doi: 10.1016/j.urology.2016.12.010. Epub 2016 Dec 20. Author information 1 Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan. Electronic address: 2 Department of Pediatrics, Graduate School of Medical[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Pierre Robin Syndrome

    Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[]

    Missing: Anterior Fontanelle Open in Adults
  • Skeletal Dysplasia

    We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a "monkey wrench" appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this[…][]

    Missing: Anterior Fontanelle Open in Adults

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