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BMJ Case Reports Apr 2021Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may...
Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.
Topics: Acrocephalosyndactylia; Cartilage; Child; Child, Preschool; Craniosynostoses; Humans; Infant; Male; Trachea; Tracheostomy
PubMed: 33811090
DOI: 10.1136/bcr-2020-236888 -
Genes Oct 2022Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and...
Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and radiographic examination and whole exome sequencing were performed on two monozygotic twins with Pfeiffer syndrome. Results: An acceptor splice site mutation in FGFR2 (c.940-2A>G) was detected in both twins. The father and both twins shared the same haplotype, indicating that the mutant allele was from their father’s chromosome who suffered severe upper airway obstruction and subsequent obstructive sleep apnea. Hypertrophy of nasal turbinates appears to be a newly recognized finding of Pfeiffer syndrome. Increased intracranial pressure in both twins were corrected early by fronto-orbital advancement with skull expansion and open osteotomy, in order to prevent the more severe consequences of increased intracranial pressure, including hydrocephalus, the bulging of the anterior fontanelle, and the diastasis of suture. Conclusions: Both twins carried a FGFR2 mutation and were discordant for lambdoid synostosis. Midface hypoplasia, narrow nasal cavities, and hypertrophic nasal turbinates resulted in severe upper airway obstruction and subsequent obstructive sleep apnea in both twins. Hypertrophy of the nasal turbinates appears to be a newly recognized finding of Pfeiffer syndrome. Fronto-orbital advancement with skull expansion and open osteotomy was performed to treat increased intracranial pressure in both twins. This is the first report of monozygotic twins with Pfeiffer syndrome.
Topics: Humans; Acrocephalosyndactylia; Twins, Monozygotic; Sleep Apnea, Obstructive; Airway Obstruction; Hypertrophy
PubMed: 36292735
DOI: 10.3390/genes13101850 -
The Journal of Clinical Pediatric... 1993The following report is the first documented case of natal teeth associated with a recently described new entity, Pfeiffer syndrome type 3. The clinical manifestations... (Review)
Review
The following report is the first documented case of natal teeth associated with a recently described new entity, Pfeiffer syndrome type 3. The clinical manifestations consistent with the spectrum of this rare disorder are described with an emphasis on the concomitant natal teeth. Pfeiffer syndrome type 3 is one of the craniosynostosis syndromes and has been described in only two patients to date. Both mandibular incisors and maxillary molar natal teeth were found. Natal teeth are teeth, which are present in the oral cavity at birth. They are often associated with developmental abnormalities and recognized syndromes. Their incidence ranges from 1 in 2,000 to 3,500 births. The natal teeth found in this infant included both the mandibular primary incisors and maxillary primary first molars bilaterally. The clinical and histological considerations of natal teeth and their management are discussed. The presence of multiple natal teeth is extremely rare.
Topics: Acrocephalosyndactylia; Female; Humans; Incisor; Infant, Newborn; Molar; Natal Teeth; Syndrome
PubMed: 8110608
DOI: No ID Found -
[Zhonghua Yan Ke Za Zhi] Chinese... Jun 2022A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed...
A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University. The child had skull fusion (clover head), obvious exophthalmos, deformity of fingers and toes, ankylosis of elbow joint or bony fusion, accompanied by neurological complications and growth retardation; FGFR2 (NM_001144916) gene c.679T>G (thymine>guanine) and p.c227gG(cysteine>glycine) heterozygous missense mutations were found in the the child, and his parents did not carry the same mutation. Pfeiffer syndrome type Ⅱ was diagnosed. Permanent adhesion of eyelid margin was performed under general anesthesia, and the postoperative condition was stable.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Exophthalmos; Humans; Infant, Newborn; Male; Mutation; Mutation, Missense; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 35692028
DOI: 10.3760/cma.j.cn112142-20220226-00077 -
Journal of Perinatology : Official... Dec 2001
Topics: Acrocephalosyndactylia; Humans; Infant, Newborn; Radiography
PubMed: 11774022
DOI: 10.1038/sj.jp.7210568 -
JBR-BTR : Organe de La Societe Royale... Jun 1999
Topics: Acrocephalosyndactylia; Adolescent; Craniofacial Abnormalities; Diagnosis, Differential; Female; Fingers; Hallux; Humans; Metatarsal Bones; Radiography; Syndactyly
PubMed: 11155868
DOI: No ID Found -
European Journal of Obstetrics,... Oct 2014
Topics: Acrocephalosyndactylia; Adult; Female; Humans; Infant, Newborn; Mutation; Pedigree; Polyhydramnios; Pregnancy; Premature Birth; Receptor, Fibroblast Growth Factor, Type 1; Ultrasonography, Prenatal
PubMed: 25183684
DOI: 10.1016/j.ejogrb.2014.08.006 -
Journal of Medical Ultrasonics (2001) Oct 2022
Topics: Pregnancy; Female; Humans; Hypoplastic Left Heart Syndrome; Acrocephalosyndactylia; Fetus; Ultrasonography, Prenatal
PubMed: 35917041
DOI: 10.1007/s10396-022-01249-9 -
Arthritis & Rheumatology (Hoboken, N.J.) May 2015
Topics: Acrocephalosyndactylia; Adolescent; Hand Joints; Humans; Male; Radiography
PubMed: 25892094
DOI: 10.1002/art.39156 -
The Cleft Palate-craniofacial Journal :... Jan 1995The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome)...
The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.
Topics: Acrocephalosyndactylia; Adult; Airway Obstruction; Cerebral Ventricles; Child; Eye Abnormalities; Facial Bones; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Orbit; Skull; Treatment Outcome
PubMed: 7727489
DOI: 10.1597/1545-1569_1995_032_0062_psacr_2.3.co_2