Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

Currarino, Guido

doi:10.1007/s00247-007-0503-4

Cited by 42 publications

(45 citation statements)

References 14 publications

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“…3,21,27 The sagittal suture is the most commonly affected in 6 of 10 in our series, which correlates with the compiled data in the literature (23/28 cases). Greater age at initial presentation for hypophosphatemic rickets and milder symptomatology are correlated with a lower incidence and severity of craniosynostosis.…”

Section: Discussionsupporting

confidence: 90%

“…Prolonged treatment with aluminum-magnesium hydroxides in particular can limit renal tubular resorption and gastrointestinal absorption of phosphorus, leading to severe depletion. 3 In addition, soy-based formulas, which contain phytates, may impair absorption of minerals, including calcium, phosphate, iron, and zinc, 5 which exacerbates the problem because their use is often coincident with antacids in infants with colic. At this time, it is recommended to use aluminum-containing antacid therapy cautiously and in low doses with routine monitoring of serum calcium and phosphorous if prolonged therapy is indicated.…”

Section: Discussionmentioning

confidence: 99%

“…This produced 10 relevant papers, 3,7,8,11,17,19,24,25,27 and these papers yielded 3 additional pertinent references of hypophosphatemic rickets linked with craniosynostosis. 4,13,16 Relevant data extracted from these papers can be reviewed in Table 1.…”

Section: Methodsmentioning

confidence: 99%

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Hypophosphatemic rickets and craniosynostosis: a multicenter case series

Vega¹,

Opalak²,

Harshbarger

et al. 2016

PED

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OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

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Hypophosphatemic rickets and craniosynostosis: a multicenter case series

Vega¹,

Opalak²,

Harshbarger

et al. 2016

PED

View full text Add to dashboard Cite

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“…These are classical pathways that are involved in early embryonic development. But also, many of the gene defects may act through causing perturbations in osteogenesis, such as filaminopathies, hypophosphatasia [Currarino, 2007;Murthy, 2009], mucopolysaccharidoses [Ziyadeh et al, 2013], osteosclerosis [Kato et al, 2002;Kwee et al, 2005;Simpson et al, 2007Simpson et al, , 2009, and pycnodysostosis [Osimani et al, 2010;Bertola et al, 2011;Berenguer et al, 2012;Caracas et al, 2012;Twigg and Wilkie, 2015]. These diagnoses include potentially treatable conditions, for which early recognition is particularly important [Wilkie et al, 2017], and more and more mutations are being identified in genes that are involved in brain development or that are associated with intellectual disability and/or behavioral anomalies (such as ASXL1 , ANKDR11 , KAT6A , KMT2D , and ZEB2 ) [Twigg and Wilkie, 2015].…”

Section: Discussionmentioning

confidence: 99%

Genetic Causes of Craniosynostosis: An Update

Goos

Mathijssen²

2018

Mol Syndromol

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In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

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“…3 Rickets may be associated with a variety of cranial bone disorders -craniosynostosis and the presence of cerebellar tonsillar descent being the most notablethat can result in an increase in intracranial pressure. [4][5][6][7][8][9][10] In our patient there was a suspicion of intracranial hypertension associated with XLH. Unfortunately, a lumbar puncture with measurement of the opening pressure could not be performed, as this procedure is considered to be dangerous in patients with an existing cerebellar tonsillar descent.…”

Section: Discussionmentioning

confidence: 99%

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets

Galvez-Ruiz

Chaudhry

2013

Neuro-Ophthalmology

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Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-yearold patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

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Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

Cited by 42 publications

References 14 publications

Hypophosphatemic rickets and craniosynostosis: a multicenter case series

Hypophosphatemic rickets and craniosynostosis: a multicenter case series

Genetic Causes of Craniosynostosis: An Update

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets

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