Clinical expression in Pfeiffer syndrome type 2 and 3: Surveillance in Japan

Koga, Hiroshi; Suga, Naohiro; Nakamoto, Takato; Tanaka, Kōichi; Takahashi, Noboru

doi:10.1002/ajmg.a.35590

Cited by 14 publications

(7 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Reported cases of prenatal diagnosis are relatively rare, and detection in the fetal period is difficult, although the incidence is three to five in 10 000 live births . Most cases of craniosynostosis are compatible with survival, although a high mortality rate is observed during the neonatal period in some conditions . Careful planning of the delivery method and perinatal care is crucial because of the potential for complex anomalies of the upper airway due to midfacial hypoplasia .…”

Section: Introductionmentioning

confidence: 99%

“…1,2 Most cases of craniosynostosis are compatible with survival, although a high mortality rate is observed during the neonatal period in some conditions. 3,4 Careful planning of the delivery method and perinatal care is crucial because of the potential for complex anomalies of the upper airway due to midfacial hypoplasia. 5 Moreover, multiple reconstructive surgeries requiring the coordination of dental and orthodontic specialists may be necessary after the infancy period.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

Aya

Miyashita

Nagai³

et al. 2018

Congenital Anomalies

View full text Add to dashboard Cite

The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%. Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also six cases of Apert syndrome, three cases of Crouzon syndrome and other rare form of syndromic craniosynostosis (Beare-Stevenson syndrome, Saethre-Chotzen syndrome, cranioectodermal dysplasia, and thanatophoric dysplasia). Abnormal shape of the skull was the most common finding leading to prenatal diagnosis of craniosynostosis. Abnormal head biometry, which was the second most frequent finding, was closely correlated with deformation of the cranial shape. Three cases presented with ventriculomegaly and exophthalmos but normal cranial shape and size. The overall survival rate of infants with syndromic craniosynostosis was 79%, while all of the infants with non-syndromic craniosynostosis survived. In conclusion, prenatal diagnosis of craniosynostosis is difficult, especially when dysmorphic change of the fetal cranium is not evident. Abnormal head biometry and ventriculomegaly could potentially be additional markers of fetal craniosynostosis and consequently increase the prenatal detection rate.

show abstract

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

Aya

Miyashita

Nagai³

et al. 2018

Congenital Anomalies

View full text Add to dashboard Cite

show abstract

“…1–3 With advances in early surgical interventions, more recent estimates have ranged from 7 to 22%. 4,5 Some deaths have been attributed to complications of known malformations. However, there is also an increased risk of death due to sudden respiratory arrest.…”

Section: Introductionmentioning

confidence: 99%

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Wenger

Dahl

Bhoj

et al. 2017

Genetics in Medicine

View full text Add to dashboard Cite

Purpose Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis. Methods Chart review of patients with syndromic craniosynostosis across two institutions. Results In a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS was found in 19, for an overall prevalence of 22%. FGFR2, TWIST1, and FGFR3 mutations were identified in children with TCS. All five children with a W290C mutation in FGFR2 had TCS, and most previously reported children with W290C had identification of TCS or early death. In contrast, TCS was not associated with other mutations at residue 290. Conclusion There is an association between TCS and syndromic craniosynostosis, and it appears to be particularly high in individuals with the W290C mutation in FGFR2. Referral to a pediatric otolaryngologist and consideration of operative airway evaluation (i.e., bronchoscopy or rigid endoscopy) in all patients with syndromic craniosynostosis should be considered to evaluate for TCS. Results from genetic testing may help providers weigh the risks and benefits of early airway evaluation and intervention in children with higher-risk genotypes.

show abstract

“…Clinically, mutations in FGFR2 have been linked to several reports of GIT disorders. For example, GIT malformations (e.g., intestinal malrotation and atresia) were found in 22% of 23 PS patients [Koga et al, ]. Autopsy examinations in 12 of a sample population of 135 AS showed that 9 (of these 12 patients) had several visceral anomalies of the GIT, although only 1.5% of these 135 AS patients presented with GIT clinical symptoms [Cohen and Kreiborg, ].…”

Section: Introductionmentioning

confidence: 99%

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

Hibberd

Arudchelvan

Forrest

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS) and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. A number of clinical reports of FGFR-associated craniosynostosis patients and mouse mutants have been linked to gastrointestinal tract (GIT) disorders, leading to the hypothesis of a direct link between FGFR-associated craniosynostosis syndromes and GIT malformations. We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and a mouse model of CS containing a mutation (W290R) in Fgfr2. We found that, compared to the general population, the incidence of intestinal/bowel malrotation (IM) was present at a higher level in our sample population of patients with FGFR-associated craniosynostosis syndromes. We also showed that the mouse model of CS had an increased incidence of cecal displacement, suggestive of IM. These findings suggest a direct relationship between FGFR-related craniosynostosis syndromes and GIT malformations. Our study may shed further light on the potential widespread impact FGFR mutations on different developmental systems. Based on reports of GIT malformations in children with craniosynostosis syndromes and substantiation with our animal model, GIT malformations should be considered in any child with an FGFR2-associated craniosynostosis syndrome.

show abstract

Clinical expression in Pfeiffer syndrome type 2 and 3: Surveillance in Japan

Cited by 14 publications

References 15 publications

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

FGFR‐associated craniosynostosis syndromes and gastrointestinal defects

Contact Info

Product

Resources

About