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15 Possible Causes for Delayed Closure of Fontanelles, Hypocalcemia, Open Anterior Fontanel

  • Kenny-Caffey Syndrome Type 1

    Medullary stenosis of the long bones is common, and delayed closure of the anterior fontanelle occurs in 90% (fontanelle may remain open into teenage years).[accessanesthesiology.mhmedical.com] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[uniprot.org] At the 72 h of birth she has been admitted in intensive unit for hypocalcemia which has been related to prematurity.[abstracts.eurospe.org]

  • Autosomal Recessive Osteopetrosis 5

    Anterior Fontanelle 22 Porencephaly 23 Hydranencephaly 24 Optic Nerve Hypoplasia Section 2 Disorders of the Perinatal Period 25 Cephalhematoma 26 Caput Succedaneum and Germinal[elsevier.com] Tooth eruption started only at the age of 22 monthswith delayed closure of his frontal fontanele (27 months).Now at age 4 years he has normal hemoglobin, plate-lets, and white[documents.tips] […] type A2 CA2 Osteopetrosis, with renal tubular acidosis CANT1 Desbuquois dysplasia CASR Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia[genda.com.ar]

  • Monosomy 1p36 Syndrome

    […] eyelids 0000581 Cleft upper lip Harelip 0000204 Congenital hypothyroidism Underactive thyroid gland from birth 0000851 Cranial nerve VI palsy 0006897 Delayed closure of the anterior[rarediseases.info.nih.gov] The disorder is characterized by cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia (CATCH-22), and schizophrenia.[questdiagnostics.com] 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[rarediseases.info.nih.gov]

  • Musculocontractural Ehlers-Danlos Syndrome Type 2

    Symptoms INHERITANCE: Autosomal recessive GROWTH: [Weight]; Severely wasted build HEAD AND NECK: [Head]; Brachycephaly; Large fontanel with delayed closure; [Face]; Broad,[findzebra.com] , autosomal dominant, Hypocalcemia, autosomal dominant, with Bartter syndrome, {Epilepsy idiopathic generalized, susceptibility to, 8}, Hypercalciuric hypercalcemia {Calcium[healthdocbox.com] […] protection against}, CASQ % 96% Ventricular tachycardia, catecholaminergic polymorphic, 2, CASR % 99% Hypocalciuric hypercalcemia, type I, Hyperparathyroidism, neonatal, Hypocalcemia[docplayer.net]

  • Vitamin D Deficiency with Rickets

    She was anemic, had a widely open anterior fontanelle and florid clinical rickets (figure 1).[jpma.org.pk] […] dental eruption Delayed fontanelle closure ( 5% of cases) [ Lazol, 2008 ] Poor linear growth ( 3% of cases) [ Lazol, 2008 ] Metabolic Changes Tetany from hypocalcemia Seizures[pedemmorsels.com] Radiological evidence of rickets was present in all 21 children, 14 had hypocalcemia at the time of presentation.[ncbi.nlm.nih.gov]

  • Skeletal Dysplasia - Intellectual Disability Syndrome

    Usually, the presenting complaints are open anterior fontanelle and dental abnormalities.[jmedscindmc.com] Glucocorticoid receptor deficiency Renal / Nephrological Glucocorticoid Remediabel Aldosteronism Renal / Nephrological Glutathione synthetase deficiency Renal / Nephrological Hypocalcemia[genomediagnosticsnijmegen.nl] Recessive, 1 Pachydermoperiostosis, Autosomal Recessive Pdp, Autosomal Recessive PHO, Autosomal Recessive Touraine-Solente-Gole Syndrome PHOAR1 259100 Genetic Test Registry Hypocalcemia[ukgtn.nhs.uk]

  • Vitamin D

    Other abnormal findings include frontal bossing, open anterior fontanel, wide wrists, and bowlegs.[aafp.org] In older infants with rickets, sitting and crawling are delayed, as is fontanelle closure; there is bossing of the skull and costochondral thickening.[merck.com] However, a potential adverse effect of ZDA is hypocalcemia that can be symptomatic, especially in patients with risk factors such as hypomagnesemia, hypoparathyroidism, renal[ncbi.nlm.nih.gov]

  • Eyebrow Duplication - Syndactyly Syndrome

    anterior fontanelle, large head in comparison to body, prominent forehead, upslanting palpebral fissures, right single palmar crease, long eyelashes, thin upper lip, right[chr7.org] 病名は、心血管異常(Cardiac defects)、特有な顔貌(Abnormal facies)、胸腺低形成(Thymic hypoplasia)、口蓋裂(Cleft palate)、低カルシウム血症(Hypocalcemia)の頭文字を取ったもの。[wikipedia.qwika.com] Several other medical problems can occur, including cleft roof of the mouth ( palate ), skeletal abnormalities, kidney problems, low calcium levels ( hypocalcemia ), seizure[portal.bsc.gwu.edu]

  • Autosomal Recessive Cutis Laxa Type 1B

    anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1] a.[idoj.in] Other features seen include growth retardation, flat feet, delayed closure of the anterior fontanel, a typical facial appearance with down-slanting palpebral fissures, and[cags.org.ae] […] hypercalcemia, type I 145980 601199 Autosomal dominant CASR 3q13.3-q21.1 Hyperparathyroidism, neonatal 239200 601199 Autosomal dominant; Autosomal recessive CASR 3q13.3-q21.1 Hypocalcemia[mnglabs.com]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

    Most cases occur before two years of age, while the anterior fontanel is still open.[aafp.org] 22 C: Cardiac abnormalities - truncus, TOF A: Abnormal facies - micrognathia, low-set ears T: Thymic aplasia C: Cleft palate/Cognitive impairment H: Hypoparathyroidism, hypocalcemia[brainscape.com] Deletion Syndrome *DiGeorge, Velocardiofacial or Shprintzen Syndrome CATCH 22: Cardiac defect--Truncus arteriosus, ToF Abnormal facies T-Cell Defect/Thymic aplasia Cleft Palate Hypocalcemia[quizlet.com]

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