Pfeiffer syndrome type 2: case report

Oyamada, Maria Kiyoko; Ferreira, Haideé Salgado Alonso; Hoff, Marcelo

doi:10.1590/s1516-31802003000400008

Cited by 10 publications

(6 citation statements)

References 9 publications

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“…Despite the timely intervention, death occurs due to postoperative complication like respiratory difficulty, arrhythmias, feeding difficulties, and temperature instability. 9 Our patient had an overall poor outcome as many factors were involved from perinatal insults as a result of difficult labor and delivery to multiple organ involvement and postoperative complications making it difficult to establish the underlying cause of death.…”

Section: F I G U R E 4 Turricephaly Due Premature Fusion Of All Suturesmentioning

confidence: 85%

“…PS type 2 has been reported with similar presentation in many literatures from the Western world. 7,9,10 However, Badoe et al 8 reported two cases of Pfeiffer syndrome subtype 3 from west Africa over a 10year period indicating the rarity of this syndrome in African population. Due to its various clinical presentation, this can easily be missed and perhaps it is under reported.…”

Section: Discussionmentioning

confidence: 99%

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Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

Amiji

Kalezi

Abdulshakoor

et al. 2020

Clinical Case Reports

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Section: F I G U R E 4 Turricephaly Due Premature Fusion Of All Suturesmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

Amiji

Kalezi

Abdulshakoor

et al. 2020

Clinical Case Reports

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“…Type II comprises a cloverleaf-shaped cranium, severe proptosis, arm and feet abnormalities and severely compromised neurological development. Type III is similar to Type II but without the cloverleaf-shaped cranium (Oyamada et al 2003). Th e grave neurological deterioration, together with the severe visceral manifestations of Type II and Type III generally lead to death within the fi rst few years of life (Lee et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Gómez-Gómez

Fernández-Alonso

Moreno-Ortega

et al. 2013

Journal of Obstetrics and Gynaecology

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We describe the antenatal and intrapartum care of a 21-year-old nulliparous patient with a known prominent Chiari network.At 19 years of age, this patient was referred to cardiologists with symptoms of inappropriate tachycardia in response to exercise and intermittent nocturnal breathlessness. ECHO revealed a large mobile fi lamentous structure in the right atrium, prolapsing through the tricuspid valve. A diagnosis of a prominent Chiari network was made. Aft er a normal exercise stress test, she was discharged from the clinic. No further investigations or follow-up were arranged. Th e patient booked with the maternity department at 11 weeks ' gestation. All baseline observations and investigations were normal. Fetal anomaly scan showed no abnormalities and growth was on the 50th centile. However, given the patient ' s diagnosis of Chiari network, consultant-led care was preferred.A cardiology opinion was sought. No concerns were raised by the department and no special recommendations for pregnancy or delivery were made.Th e pregnancy progressed well. Th e patient presented in spontaneous labour at term and laboured to full dilatation, but aft er failure to deliver following 1 hour of pushing, assisted delivery was required. A live female infant was delivered with Ventouse. Apgars were 9 and 10; weight 3,760 g. Observations remained stable throughout delivery.Th e woman made an uneventful postpartum recovery, and was discharged home the next day with her baby.

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“…Only eight cases reported the use of CT imaging to confirm the choanal atresia diagnosis 42–49 , while others cited Doppler evidence 50 , choanagraphy 51 , inability to pass a naso-gastric tube through the posterior choanae 52 , simple reference to “imaging” 47 , and pharyngiogram 53 . Although CT imaging was mentioned in seven additional case reports, those reports did not include an indication of whether the scan was utilized in the choanal atresia diagnosis 53–59 . Another nine reports mentioned various types of surgical intervention in which direct visualization may have been possible, but no explicit description of the surgical evaluation was given 54,57,60–66 .…”

Section: Choanal Atresia and Syndromic Craniosynostosis In Pediatric mentioning

confidence: 99%

Choanal Atresia and Craniosynostosis: Development and Disease

Lesciotto

Heuzé

Jabs

et al. 2018

Plastic &Amp; Reconstructive Surgery

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A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

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Pfeiffer syndrome type 2: case report

Cited by 10 publications

References 9 publications

Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

Choanal Atresia and Craniosynostosis: Development and Disease

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