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336 Possible Causes for Delayed Closure of Fontanelles

  • Saethre-Chotzen Syndrome

    closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[] A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed[]

  • Primary Hypertrophic Osteoarthropathy

    Currarino's disease is an extremely rare variant of primary hypertrophic osteoarthropathy in which there is delayed closure of the fontanelles and an absence of skin involvement[] Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis.[] We have now encountered three siblings, two of whom had digital clubbing, patent arterial ducts and delayed closure of the cranial fontanels.[]

  • Cleidocranial Dysplasia

    Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium[] CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles.[] We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles[]

  • Tenorio Syndrome

    Dentition is delayed. Recurrent stomatitis and gastroesophageal reflux have been noted. Closure of the fontanels is delayed.[]

  • Monosomy 1p36 Syndrome

    closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Delayed CNS myelination 0002188 Delayed skeletal maturation Delayed bone maturation[] […] opening between the eyelids 0000581 Cleft upper lip Harelip 0000204 Congenital hypothyroidism Underactive thyroid gland from birth 0000851 Cranial nerve VI palsy 0006897 Delayed[]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] bone age, downturned corners of mouth and thin upper lip, hypospadias , high pitched voice, small chin, delayed closure of the fontanel , hypoglycemia , and a bossed forehead[] closure of the fontanel, hypoglycemia, and a broadforehead which may appear to be triangular shaped and largefor their small body size, and some patients have hemi-hyper-trophy[] […] body asymmetry, lack of appetite, low-set posteriorly rotated ears, clinodactly (inward curving) of the 5th finger, webbed toes, non-descended testicles , weak muscle tone, delayed[]

  • Mandibuloacral Dysostosis

    Delayed closure of cranial sutures and fontanelles leads to frontal, parietal and occipital bossing.[] closure of the fontanels, and congenital heart disease.[] delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rippled skin[]

  • Lenz-Majewski Syndrome

    The radiographic features of the LMHD skeleton include delayed closure of the anterior fontanel with progressive osteosclerosis of the skull, including the petrous bones and[]

  • Russell-Silver Syndrome

    […] of the anterior fontanel (soft spot) · frequent ear infections or chronic fluid in ears · congenital absence of the second premolars · delay of gross and fine motor development[] […] stomach emptying resulting in vomiting or frequent spitting up slow movement of the small intestine &/or large intestine (constipation) late closure of the anterior fontanel[] […] resulting in vomiting or frequent spitting up c) slow movement of the small intestine &/or large intestine (constipation) · blue sclera (bluish tinge in white of eye) · late closure[]

  • Hunter-MacDonald Syndrome

    Evaluation of protein glycosylation status is recommended for all children presenting with congenital wrinkled skin/cutis laxa, late fontanel closure, developmental delay,[]

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