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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
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Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome [PDF]
DiagnosticsApert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and ...
Valentin Nicolae Varlas +2 more
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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
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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
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Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation [PDF]
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
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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
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Acrocephalosyndactyly Type 1 (Apert Syndrome): A case report [PDF]
Indian Dermatology Online Journal, 2021 Vruti Chavda +2 more
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Apert syndrome: A rare case requiring multidisciplinary approach for a better living
TNOA Journal of Ophthalmic Science and Research, 2021 A 7-year-old boy presented with watering, prominent eyes and defective vision. He had brachycephaly, hypertelorism, shallow proptotic orbits, large exotropia, and syndactyly of the hands and feet.
Sasikala A Elizabeth +1 more
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Periodontology 2000, Volume 93, Issue 1, Page 327-339, October 2023., 2023 Abstract When bone is limited, short, ultra‐short, or narrow implants help to restore oral rehabilitation with an acceptable long‐term outcome. This becomes more difficult with severe vertical bone loss. Guided bone regeneration, onlay block transplantation, or sandwich osteotomy have been established to build up these defects.
Hans‐Joachim Nickenig +2 more
wiley +1 more source
Andrology, Volume 11, Issue 6, Page 973-986, September 2023., 2023 Abstract Background The increase in paternal age and the percentage of births after assisted reproductive technologies (ART) may have consequences on offspring and society's position regarding access to ART must be questioned. Most countries recommend limiting ART to men under 60 years. What is the rationale for this threshold?
Annabelle Gourinat +4 more
wiley +1 more source