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Case 2.11
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
This patient has Pfeiffer syndrome. Please tell me more about thisThis is an autosomal dominant syndrome with FGFR2 mutation on chromosome 2 with an incidence of 1:100,000 live births. A minority of patients with less severe phenotype have FGFR1 mutation.It manifests asa turribrachycephaly with bicoronal synostoses, oras a Kleeblattschadel or cloverleaf with numerous synostoses, in 25%.Intracranial anomalies include hydrocephalus and Chiari malformation.Orbital anomalies include exorbitism, hypertelorism, downslanting palpebral fissures, and strabismus.Midface anomalies include midface hypoplasia with a low nasal bridge.Classically, they have broad thumbs and halluces.
Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
First described in 1964, Pfeiffer syndrome is similar to Crouzon syndrome and is characterized by craniosynostosis and midfacial hypoplasia with shallow orbits. Additional features of Pfeiffer syndrome include broad thumbs and broad great toes. Severity of craniofacial anomalies can vary from mild midfacial hypoplasia to a cloverleaf skull (Figure 19.7). Coronal sutures are most commonly affected, with resultant brachycephaly. Other features may include skeletal anomalies such as fusion of the elbow joint, solid cartilaginous trachea and choanal stenosis or atresia. Three clinical or phenotypical subtypes have been suggested depending on the extent of associated features4 and there is some evidence for a genotype–phenotype correlation for some mutations.39 Pfeiffer syndrome is caused by mutations in FGFR1 and FGFR2, in some cases the same mutations that can cause Crouzon syndrome.7,40,41 Inheritance is autosomal dominant although many cases arise as a result of new mutations. Intelligence varies from normal to mild learning difficulties, although central nervous system abnormalities may occur in severe cases.11
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Pfeiffer syndrome type 3: turribrachycephalic skull, extreme proptosis, hydrocephalusankylosis of elbows, knees.
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review
Published in Fetal and Pediatric Pathology, 2019
Christian Peña-Padilla, Lorena Viramontes-Aguilar, Gerónimo Tavares-Macías, Lucina Bobadilla-Morales, Michael L. Cunningham, Sarah Park, Eugenio Zapata-Aldana, Jorge Román Corona-Rivera
Pfeiffer syndrome (PS) is an autosomal dominant (AD) entity (OMIM: #101600) characterized by craniosynostosis, broad thumbs, and great toes deviated to the preaxial side [1], and these clinical characteristics were delineated for the first time by Pfeiffer in 1964 [2]. PS is produced by a heterozygous pathogenic variant in the FGFR1 or FGFR2 genes. The classification of PS relies on the characteristic clinical manifestation of each type (described in Table 1), for example, type 1 has the mildest presentation of the three PS types, with a typical familial presentation, mid-face hypoplasia, broad thumbs and halluces, and syndactyly; type 2 presents with cloverleaf skull and severe ocular proptosis; and type 3 manifests a severe lethal craniosynostosis with severe ocular proptosis [3]. Other less frequent manifestations that overlap between the three types are visceral anomalies, elbow ankylosis, and early death, although these are more characteristic for PS types 2 and 3 [3]. The association of “prune belly” and PS was first reported by Bracero in a male infant with cloverleaf skull, ocular proptosis, broad thumbs, urachal fistula, and hypospadias [4]; PS type 2 in Cohen classification. Since then only one other case has been reported, a female infant with severe craniosynostosis, ocular proptosis and intestinal malrotation [5]; PS type 3 in Cohen classification. In none of these cases a molecular study was performed. Here we present the second case of PS type 3 and “prune belly,” with a literature review.
Liquid biopsy in Retinoblastoma: A review
Published in Seminars in Ophthalmology, 2022
Circulating cfDNA is also used in non-invasive prenatal screening (NIPS) for detection of dominant Mendelian monogenic disorders such as osteogenesis imperfecta, thanatophoric dysplasia, achondroplasia, Apert syndrome, Noonan spectrum disorder, Crouzon syndrome and Pfeiffer syndrome.3 Next-generation sequencing (NGS) is used for the analysis of targeted regions. Screening for aneuploidies and carrier screening for recessive disorders can also be performed through cfDNA in maternal plasma.