Acrocephalosyndactyly Type 1 (Apert Syndrome): A case report [PDF]
Indian Dermatology Online Journal, 2021 Vruti Chavda +2 more
doaj +5 more sources
Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report [PDF]
Clinical Medicine Insights: Case ReportsWe report a case of acrocephalosyndactyly, Pfeiffer syndrome type 1 with a mutation in FGFR2 c.758C>G (p.Ser253Trp) in a newborn with mild midfacial hypoplasia, significant brachydactyly and syndactyly in the hands and feet.
Justus Omokhafe Justus
doaj +3 more sources
Apert syndrome (acrocephalosyndactyly) [PDF]
Praxis medica, 2013 Departament Pediatrie, USMF „Nicolae Testemiţanu”Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.
Balan, Olga +3 more
core +5 more sources
Linkage analysis in dominant acrocephalosyndactyly. [PDF]
Journal of Medical Genetics, 1978 Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in
J R, Eastman, V, Escobar, D, Bixler
exaly +5 more sources
Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings [PDF]
Radiology Case Reports, 2021 : Pfeiffer syndrome, affecting roughly 1 in 100,000 individuals is characterized by acrocephalosyndactyly – the premature closure of skull sutures (craniosynostosis).
Neil Duggal +4 more
doaj +2 more sources
Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report [PDF]
Children, 2022 Fibroblast growth factor receptors (FGFRs) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in FGFRs disrupts the formation of endochondral bony
Min Jeong Jang, Moon Bae Ahn
doaj +2 more sources
PASIEN SINDROMA APERT YANG DILAKUKAN OPERASI FRONTO ORBITAL ADVANCEMENT SETELAH OCCIPITAL EXPANSION [PDF]
Jurnal Rekonstruksi dan Estetik, 2022 Highlights: • Tindakan operasi occipital expansion diterapkan pada kasus Sindroma Apert untuk meluaskan area tengkorak, diikuti oleh fronto orbital advancement (FOA) guna meningkatkan baik fungsi maupun penampilan memperoleh hasil yang memuaskan ...
Almahitta Cintami Putria +2 more
doaj +3 more sources
Persistent falcine sinus in the newborn: 3 case reports of associated anomalies [PDF]
Radiology Case Reports, 2023 The falcine sinus is a normal embryonic structure that is situated between the 2 layers of the falx cerebri and drains the deep cerebral venous system into the superior sagittal sinus. It normally involutes after birth and is uncommon in adults. Although
Lee K. Rousslang, MD +4 more
doaj +2 more sources
Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation
Indian Journal of Plastic Surgery, 2021 Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner.
Chandra Bhan Singh +4 more
doaj +2 more sources