Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome

Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome

<p><strong>Background:</strong> Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectr...

Bibliografski detalji
Glavni autori:	Kilcoyne, S, Potter, KR, Gordon, Z, Overton, S, Brockbank, S, Jayamohan, J, Magdum, S, Smith, M, Johnson, D, Wall, S, Wilkie, AOM
Format:	Journal article
Jezik:	English
Izdano:	Lippincott, Williams and Wilkins 2021

Slični predmeti

Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome
od: Kilcoyne, S, i dr.
Izdano: (2019)

Hearing, speech, language and communicative participation in patients with Apert syndrome: analysis of correlation with Fibroblast Growth Factor Receptor 2 mutation
od: Kilcoyne, S, i dr.
Izdano: (2021)

Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
od: Caroline Apra, i dr.
Izdano: (2016-10-01)

Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome
od: Woods, R, i dr.
Izdano: (2009)

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
od: Woods, R, i dr.
Izdano: (2009)

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
od: Rafat Mosalli, i dr.
Izdano: (2022-01-01)

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis
od: Chih-Ping Chen, i dr.
Izdano: (2013-12-01)

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.
od: Thomas, G, i dr.
Izdano: (2015)

Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features.
od: Eley, K, i dr.
Izdano: (2012)

Síndrome de Pfeiffer con mutación Trp290Cys del gen FGFR2 y fístula rectovaginal
od: Natalia Lemos Calle, i dr.
Izdano: (2022-09-01)

Idiopathic Intracranial Hypertension following Ventriculoperitoneal Shunt Malfunction in Infant Hydrocephalus
od: Sangjun Ahn, i dr.
Izdano: (2021-12-01)

Pfeiffer's classic activities for diversity training /
od: Gordon, Jack, 1921-
Izdano: (2005)

Pfeiffer syndrome
od: Fryns Jean-Pierre, i dr.
Izdano: (2006-06-01)

Pfeiffer's classic activities for developing new managers /
od: Gordon, Jack, 1949-
Izdano: (2004)

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
od: Torres-Canchala L, i dr.
Izdano: (2020-08-01)

Regulation of brain fluid volumes and pressures: basic principles, intracranial hypertension, ventriculomegaly and hydrocephalus
od: Stephen B. Hladky, i dr.
Izdano: (2024-07-01)

Pfeiffer's classic inventories, questionnaires and surveys for training and development /
od: Gordon, Jack, 1949-
Izdano: (2004)

The 2006 Pfeiffer annual : consulting /
od: Biech, Elaine
Izdano: (2006)

The 2012 pfeiffer annual : consulting /
od: Biech, Elaine 249959
Izdano: (2012)

The 2009 pfeiffer annual : training /
od: Biech, Elaine
Izdano: (2008)

The 2004 Pfeiffer annual : training /
od: Biech, Elaine, i dr.
Izdano: (2004)

The 2007 Pfeiffer annual : training /
od: Biech, Elaine, i dr.
Izdano: (2007)

The 2006 Pfeiffer annual : training /
od: Biech, Elaine
Izdano: (2006)

The 2004 Pfeiffer annual : consulting /
od: Biech, Elaine, i dr.
Izdano: (2004)

The 2004 Pfeiffer annual : training /
od: Biech, Elaine, i dr.
Izdano: (2004)

An integrated approach to the management of meningoencephalocoeles
od: Roumeliotis, G, i dr.
Izdano: (2021)

The Pfeiffer handbook of structured experiences. learning activities for personal development /
od: Gordon, Jack, 1921-
Izdano: (2004)

The Pfeiffer handbook of structured experiences. learning activities for personal development /
od: Gordon, Jack, 1921-
Izdano: (2004)

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
od: Thomas, G, i dr.
Izdano: (2005)

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
od: Rannan-Eliya, S, i dr.
Izdano: (2004)

Giant Prolactinoma Causing Hydrocephalus and Intracranial Hypertension as First Manifestations of Multiple Endocrine Neoplasia Type 1
od: Naiara C. B. Dantas, i dr.
Izdano: (2019-08-01)

The Pfeiffer handbook of structured experiences : Learning activities for intact teams and workgroups /
od: Gordon, Jack, 1921-
Izdano: (2004)

The 2007 Pfeiffer annual : leadership development /
Izdano: (2007)

The 2008 pfeiffer annual : leadership development /
od: Noel, Jim, i dr.
Izdano: (2008)

The 2009 Pfeiffer annual : leadership development /
Izdano: (2009)

Diagnosis of Pfeiffer Syndrome with Umbilical Hernia
od: Bhesham Kumar Shahani, i dr.
Izdano: (2024-05-01)

Kleeblattschädel in Pfeiffer syndrome type II
od: Cory M. Pfeifer, MD, MPH, MS
Izdano: (2020-05-01)

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
od: Jay, S, i dr.
Izdano: (2013)

Idiopathic Intracranial Hypertension
od: J Gordon Millichap
Izdano: (2001-08-01)

Idiopathic Intracranial Hypertension
od: J Gordon Millichap
Izdano: (2007-05-01)