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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).[] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[] At the 72 h of birth she has been admitted in intensive unit for hypocalcemia which has been related to prematurity.[]

  • 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[] 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[] […] type A2 CA2 Osteopetrosis, with renal tubular acidosis CANT1 Desbuquois dysplasia CASR Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia[]

  • 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[] The disorder is characterized by cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia (CATCH-22), and schizophrenia.[] 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[]

  • 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,[] , autosomal dominant, Hypocalcemia, autosomal dominant, with Bartter syndrome, {Epilepsy idiopathic generalized, susceptibility to, 8}, Hypercalciuric hypercalcemia {Calcium[] […] protection against}, CASQ % 96% Ventricular tachycardia, catecholaminergic polymorphic, 2, CASR % 99% Hypocalciuric hypercalcemia, type I, Hyperparathyroidism, neonatal, Hypocalcemia[]

  • Vitamin D Deficiency with Rickets

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

  • Skeletal Dysplasia - Intellectual Disability Syndrome

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

  • Vitamin D

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

  • 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[] 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。[] Several other medical problems can occur, including cleft roof of the mouth ( palate ), skeletal abnormalities, kidney problems, low calcium levels ( hypocalcemia ), seizure[]

  • Autosomal Recessive Cutis Laxa Type 1B

    anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1] a.[] Other features seen include growth retardation, flat feet, delayed closure of the anterior fontanel, a typical facial appearance with down-slanting palpebral fissures, and[] […] 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[]

  • Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome

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

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