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6 Possible Causes for Anterior Fontanelle Open in Adults, One Third of Patients Represent New Mutations

  • Cleidocranial Dysplasia

    Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD. Mutations scattered throughout the entire CBFA1 gene have been related to this disorder. However, it seems that most of them affect the highly conserved[…][ncbi.nlm.nih.gov]

  • Pyknodysostosis

    Abstract Pyknodysostosis is a rare form of sclerosing bone dysplasia with autosomal recessive inheritance. Affected members of two families were assessed as follows: three patients underwent densitometry measurements and bone scans; four patients underwent magnetic resonance imaging (MRI) and an immunological[…][ncbi.nlm.nih.gov]

    Missing: One Third of Patients Represent New Mutations
  • Communicating Hydrocephalus

    fontanelle when it is still open) Findings: enlarged lateral ventricles MRI (preferred for children) or CT Indication: older infants (when fontanelle is already closed, typically[amboss.com] 6 months of age) or adults Features of acute hydrocephalus: enlarged ventricles Temporal horn dilation 2 mm Evans ratio 30% Sulcal enlargement Mickey Mouse ventricles Upward[amboss.com] Changes in vital signs resulting from brainstem compression Ultrasonography Indication: clinical suspicion during antenatal period or in infants 6 months of age (through the anterior[amboss.com]

    Missing: One Third of Patients Represent New Mutations
  • Neurofibromatosis Type 2

    More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation.[orpha.net] Etiology NF2 is caused by mutations in the NF2 gene on chromosome 22.[orpha.net]

    Missing: Anterior Fontanelle Open in Adults
  • Congenital Communicating Hydrocephalus

    fontanelle when it is still open) Findings: enlarged lateral ventricles MRI (preferred for children) or CT Indication: older infants (when fontanelle is already closed, typically[amboss.com] 6 months of age) or adults Features of acute hydrocephalus: enlarged ventricles Temporal horn dilation 2 mm Evans ratio 30% Sulcal enlargement Mickey Mouse ventricles Upward[amboss.com] Changes in vital signs resulting from brainstem compression Ultrasonography Indication: clinical suspicion during antenatal period or in infants 6 months of age (through the anterior[amboss.com]

    Missing: One Third of Patients Represent New Mutations
  • Aniridia

    Patients with aniridia without a positive family history have a 30% chance of developing Wilms tumor, and they represent new mutations for the autosomal dominant gene.[emedicine.com] About one third of such patients have a mutation that affects the WT and AN2 loci, causing the patient to develop Wilms tumor; the other two thirds of patients have a mutation[emedicine.com] Two genetic loci for aniridia have been identified: one ( AN1 ) on chromosome arm 2p and one ( AN2 ) on chromosome 11.[emedicine.com]

    Missing: Anterior Fontanelle Open in Adults

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