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827 Possible Causes for Anterior Fontanelle Open in Adults, Congenital Facial Anomaly

  • Cleidocranial Dysplasia

    Cleidocranial dysplasia (CCD) is a rare congenital disorder characterized by skeletal and dental anomalies.[] This clinical report describes the prosthodontic approach to treating a CCD patient who presented with decreased facial height and relative mandibular protrusion due to maxillary[]

  • CHARGE Syndrome

    Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance,[] The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure[] , cupped ears Facial clefting Tracheoesophageal fistula Congenital heart defects Genitourinary anomalies Developmental delay Other frequently associated abnormal findings[]

    Missing: Anterior Fontanelle Open in Adults
  • Seckel Syndrome

    Abstract Around 15-20 hereditary disorders associated with impaired DNA damage response mechanisms have been previously described. The range of clinical features associated with these disorders attests to the significant role that these pathways play during development. Recently, three new such disorders have[…][]

    Missing: Anterior Fontanelle Open in Adults
  • 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[…][]

    Missing: Congenital Facial Anomaly
  • Hyperuricemia

    Abstract Transient renal insufficiency in the neonate is frequently the result of hypoperfusion of the kidneys due to circulatory compromise and is associated with a normal renal ultrasound scan. We describe an infant with transient renal insufficiency associated with hyperuricemia, hyperuricosuria and increased[…][]

    Missing: Anterior Fontanelle Open in Adults
  • Mowat-Wilson Syndrome

    Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism.[] Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease[] Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability[]

    Missing: Anterior Fontanelle Open in Adults
  • Hypogonadism

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism[] Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental[]

    Missing: Anterior Fontanelle Open in Adults
  • Endocrine Dysfunction

    […] arterial anomalies, and pituitary dysfunction.[] One had an extensive segmental facial hemangioma with ipsilateral intracranial hemangiomas.[] The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial[]

    Missing: Anterior Fontanelle Open in Adults
  • Hypothyroidism

    […] gastrointestinal anomalies, reduced neuromuscular tone, dysmorphic features of the head, neck and airways, characteristic facial and physical features, audiovestibular and[] The syndrome is due to trisomy of the whole or part of chromosome 21 in all or some cells of the body and is associated with mental retardation, congenital heart defects,[]

    Missing: Anterior Fontanelle Open in Adults
  • Ectropion

    Neurofibromatosis, Prader-Willi syndrome, Rieger anomaly, and facial hemihypertrophy were found to occur concomitantly with CEU, suggesting the possibility of a neural crest[] In this series, underlying systemic congenital pathological abnormalities were present in 7 of 8 patients.[]

    Missing: Anterior Fontanelle Open in Adults

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