Recent articles about Pfeiffer Syndrome

Paternal Origin Of Fgfr2 Mutations In Sporadic Cases Of Crouzon Syndrome And...

[ PUBLICATION ] ... and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the ...
Known for
Pfeiffer Syndrome | Fgfr2 Mutations | Paternal Origin | Additional Reports

Cephalocranial Disproportionate Fossa Volume And Normal Skull Base Angle In...

[ PUBLICATION ] ... Pfeiffer syndrome is a rare syndromic craniosynostosis disorder, with a wide range of clinical manifestations. This study aims to investigate the structural abnormalities of cranial fossa ...
Known for
Pfeiffer Syndrome | Fossa Volume | Skull Base | Sagittal Synostosis

Nasopharyngeal Airway And Subcranial Space Analysis In Pfeiffer Syndrome

[ PUBLICATION ] ... with Pfeiffer syndrome to survive by preventing respiratory crisis, but difficulty in decannulation may consequently be a challenge. This study has investigated the regional abnormalities ...
Known for
Pfeiffer Syndrome | Pharyngeal Airway | Subcranial Space | Cross-Sectional Area

Cleft Palate In Pfeiffer Syndrome

[ PUBLICATION ] ... is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed ...
Known for
Pfeiffer Syndrome | Cleft Palate | Diagnostic Criteria | Confirmed Diagnosis

Feeding, Communication, Hydrocephalus, And Intracranial Hypertension In Patients...

[ PUBLICATION ] ... 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 ...
Known for
Pfeiffer Syndrome | Intracranial Hypertension | Severe Fgfr2 | Feeding Difficulties

Pfeiffer Syndrome

[ PUBLICATION ] ... syndromes, Pfeiffer syndrome is notable because of high mortality and the need for multiple surgical interventions. However, it is variable in severity. We propose a new classification of ...
Known for
Pfeiffer Syndrome | Functional Classification | Surgical Interventions | Multidisciplinary Planning

The Ophthalmic Sequelae Of Pfeiffer Syndrome And The Long-Term Visual Outcomes...

[ PUBLICATION ] ... Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is ...
Known for
Pfeiffer Syndrome | Ophthalmic Sequelae | Craniofacial Surgery | Long-Term Visual

Premature Closure Of The Spheno-Occipital Synchondrosis In Pfeiffer Syndrome

[ PUBLICATION ] ... with Pfeiffer syndrome, a retrospective case-control study was performed in patients treated at a large craniofacial center between 1982 and 2012 diagnosed with Pfeiffer syndrome. At least ...
Known for
Pfeiffer Syndrome | Premature Closure | Spheno-Occipital Synchondrosis | Midface Hypoplasia

Papilledema In Patients With Apert, Crouzon, And Pfeiffer Syndrome

[ PUBLICATION ] ... or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ...
Known for
Pfeiffer Syndrome | Syndromic Craniosynostosis | Ventricular Dilatation | Optic Disk

Variable Prenatal Presentation Of Pfeiffer Syndrome: Suggested Aids To Prenatal...

[ PUBLICATION ] ... of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). METHODS: Cases of fetuses with a confirmed ...
Known for
Pfeiffer Syndrome | Prenatal Sonographic | Big Toes | Sacral Appendage

 

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