Article
Biology
Susan M. Motch Perrine, M. Kathleen Pitirri, Emily L. Durham, Mizuho Kawasaki, Hao Zheng, Danny Z. Chen, Kazuhiko Kawasaki, Joan T. Richtsmeier, Min Zhu
Summary: This study provides a complete 3D reconstruction of the embryonic mouse chondrocranium and investigates the effects of a Fgfr2 variant on skull development. The findings reveal direct impacts of the Fgfr2 variant on embryonic cartilage, chondrocranial morphology, and the association between chondrocranium and dermatocranium development.
Article
Surgery
Xiaona Lu, Antonio Jorge Forte, Omar Allam, Kitae Eric Park, Alexander Wilson, Michael Alperovich, Derek M. Steinbacher, Cristiano Tonello, Nivaldo Alonso, John A. Persing
Summary: Visual impairment is common in Pfeiffer syndrome patients due to orbital and periorbital dysmorphology. This study found that these patients have decreased retrobulbar soft-tissue and globe volume, as well as restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma).
PLASTIC AND RECONSTRUCTIVE SURGERY
(2022)
Article
Medicine, Research & Experimental
Anisha R. Noble, Michael L. Cunningham, Austin Lam, Tara L. Wenger, Kathleen C. Sie, Jonathan A. Perkins, John P. Dahl
Summary: Tracheal cartilaginous sleeve (TCS) is a rare anomaly associated with syndromic craniosynostoses. This study highlights the prevalence of tracheostomy as a common intervention in patients with TCS, and the utility of genetic testing in identifying high-risk patients for early intervention.
Article
Surgery
Yoshiaki Sakamoto, Toshiki Takenouchi, Tomoru Miwa, Kazuo Kishi
Summary: This study investigated the quality of life of adult patients with syndromic craniosynostosis, revealing that patients with Crouzon syndrome have poor social participation while those with Apert syndrome struggle with understanding, communication, and self-care. The study emphasizes the importance of providing psychological support to these patients and creating an accepting society to help them integrate better.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Xiaona Lu, Antonio Jorge Forte, Alexandra Junn, Jacob Dinis, Michael Alperovich, Nivaldo Alonso, John A. Persing
Summary: This study investigates the influence of different cranial vault suture synostoses on orbital and periorbital morphological development in Crouzon syndrome. The findings suggest that the effects of different types of cranial suture fusion on orbital and periorbital tissues varies, and individualized surgical interventions may provide additional benefits in mitigating oculo-orbital disproportion.
JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY
(2022)
Article
Genetics & Heredity
M. Kathleen Pitirri, Emily L. Durham, Natalie A. Romano, Jacob I. Santos, Abigail P. Coupe, Hao Zheng, Danny Z. Chen, Kazuhiko Kawasaki, Ethylin Wang Jabs, Joan T. Richtsmeier, Meng Wu, Susan M. Motch Perrine
Summary: The Fgfr2c C342Y mutation in the Crouzon syndrome mouse model leads to abnormal development of the lower jaw and craniofacial anomalies. Meckel's cartilage may play a role in mandibular bone formation, suggesting a functional relationship between the two. Mandibular dysmorphogenesis could be attributed to abnormalities in Meckel's cartilage affecting the development of the mandible.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, Research & Experimental
Austin S. Lam, Carrie C. Liu, Gail H. Deutsch, Joshua Rivera, Jonathan A. Perkins, Greg Holmes, Ethylin W. Jabs, Michael L. Cunningham, John P. Dahl
Summary: This study found TCS phenotypes only in the Fgfr2 (C342Y) mouse lines, which also had increased tracheal cartilage compared to other mutant lines and controls. These data support further study of the Fgfr2 mouse lines and other Fgfr2 variants to better understand their role in tracheal development and TCS formation.
Article
Surgery
Xiaona Lu, Antonio Jorge Forte, Kitae Eric Park, Omar Allam, Mohammad Ali Mozaffari, Michael Alperovich, Derek M. Steinbacher, Nivaldo Alonso, John A. Persing
Summary: This study found that isolated bicoronal synostosis tends to reduce the volume of sphenoidal and temporal bones in early stages, with inferior and posterior rotation of the entire sphenoid. Syndromic conditions exhibit similar changes, restricting sphenoidal rotation and expansion of sphenoidal structures.
JOURNAL OF CRANIOFACIAL SURGERY
(2021)
Article
Clinical Neurology
Cassio Eduardo Raposo-Amaral, Yuri Moresco de Oliveira, Rafael Denadai, Cesar Augusto Raposo-Amaral, Enrico Ghizoni
Summary: This study aimed to describe and compare syndrome-related potential complications and outcomes associated with PVDO. The results showed that PVDO is an effective technique in addressing elevated intracranial pressure in SC patients at midterm follow-up, reducing the need for secondary procedures. Apert syndrome patients had higher total blood transfusion rates compared to Crouzon syndrome patients, who underwent surgery at a later age and weighed less.
CHILDS NERVOUS SYSTEM
(2021)
Article
Dentistry, Oral Surgery & Medicine
X. Lu, A. J. Forte, M. Alperovich, N. Alonso, J. A. Persing
Summary: This study compared the orbital and peri-orbital morphological variations in Apert syndrome patients with different cranial vault suture synostosis, and found that the different types of synostosis have varying effects on orbital volume and globe protrusion.
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
(2022)
Article
Surgery
Xiaona Lu, Antonio Jorge Forte, Jacob Dinis, Alexandra Junn, Michael Alperovich, Nivaldo Alonso, John A. Persing
Summary: This study explores the differences in oculoorbital disproportion in patients with craniosynostosis, comparing syndromic and nonsyndromic cases. Results show that Apert syndrome and Crouzon syndrome have distinct impacts on the orbital and periorbital anatomy, resulting in variations in eye protrusion and skeletal malformation.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2022)
Article
Anatomy & Morphology
Yukiko Hoshino, Masaki Takechi, Mehran Moazen, Miranda Steacy, Daisuke Koyabu, Toshiko Furutera, Youichirou Ninomiya, Takashi Nuri, Erwin Pauws, Sachiko Iseki
Summary: This study evaluated the cranial morphology changes in mouse models of syndromic craniosynostosis. The researchers found shared features, such as the fusion of specific synchondroses and affected growth patterns, in these mouse models. These findings contribute to a better understanding of the disease progression.
JOURNAL OF ANATOMY
(2023)
Article
Surgery
Sung-Ho Ha, HyunJong Lee, Jin-Young Choi
Summary: Crouzon syndrome, an inherited disease affecting craniofacial development, can be treated effectively using 3D technology and patient-specific implants. This case report demonstrates the benefits of 3D printing in improving facial aesthetics and occlusion for patients with Crouzon syndrome.
JOURNAL OF CRANIOFACIAL SURGERY
(2022)
Article
Cell Biology
Daisuke Torii, Tomoko Kobayashi, Tetsuro Horie, Takeo W. Tsutsui
Summary: This study found that dental pulp stem cells derived from Crouzon syndrome patients showed higher expression of osteocalcin and lower responsiveness to PMA stimulation compared to healthy donor stem cells.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Pediatrics
Kenji Ogura, Yukiho Kobayashi, Rina Hikita, Michiko Tsuji, Keiji Moriyama
Summary: This study conducted a quantitative three-dimensional analysis of palatal morphology in patients with Apert syndrome and Crouzon syndrome. The results showed significant differences in palate width and depth between the two syndromes, with Apert syndrome patients having narrower and shallower palates compared to Crouzon syndrome patients.
CONGENITAL ANOMALIES
(2022)
Article
Cell Biology
Susan M. Motch Perrine, Meng Wu, Nicholas B. Stephens, Divya Kriti, Harm van Bakel, Ethylin Wang Jabs, Joan T. Richtsmeier
DISEASE MODELS & MECHANISMS
(2019)
Article
Anatomy & Morphology
Kate M. Lesciotto, Susan M. Motch Perrine, Mizuho Kawasaki, Timothy Stecko, Timothy M. Ryan, Kazuhiko Kawasaki, Joan T. Richtsmeier
DEVELOPMENTAL DYNAMICS
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
M. Pitirri, Susan Perrine, Risa Takenaka, Ralph Marcucio, Joan Richtsmeier
Article
Multidisciplinary Sciences
Greg Holmes, Ana S. Gonzalez-Reiche, Madrikha Saturne, Susan M. Motch Perrine, Xianxiao Zhou, Ana C. Borges, Bhavana Shewale, Joan T. Richtsmeier, Bin Zhang, Harm van Bakel, Ethylin Wang Jabs
Summary: Research found enriched expression of Hhip in the mesenchyme of the murine coronal suture, and sutural dysgenesis in Hhip-/- mutants, indicating the necessity of Hhip for normal development of the coronal suture.
NATURE COMMUNICATIONS
(2021)
Article
Biology
Susan M. Motch Perrine, M. Kathleen Pitirri, Emily L. Durham, Mizuho Kawasaki, Hao Zheng, Danny Z. Chen, Kazuhiko Kawasaki, Joan T. Richtsmeier, Min Zhu
Summary: This study provides a complete 3D reconstruction of the embryonic mouse chondrocranium and investigates the effects of a Fgfr2 variant on skull development. The findings reveal direct impacts of the Fgfr2 variant on embryonic cartilage, chondrocranial morphology, and the association between chondrocranium and dermatocranium development.
Article
Genetics & Heredity
Ryan W. Gates, Bryn D. Webb, David A. Stevenson, Ethylin Wang Jabs, Colette Defilippo, Maura R. Z. Ruzhnikov, Christina G. Tise
Summary: Moebius syndrome is a congenital disorder characterized by nonprogressive palsies of cranial nerves VI and VII, resulting in facial weakness and inability to abduct the eye(s). The etiology of Moebius syndrome is still unclear, as most cases are sporadic and do not have a known genetic cause.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Anatomy & Morphology
M. Kathleen Pitirri, Joan T. T. Richtsmeier, Mizuho Kawasaki, Abigail P. P. Coupe, Susan Motch Perrine, Kazuhiko Kawasaki
Summary: Bone can form through intramembranous ossification or endochondral ossification. This study investigates the relationship between cranial cartilage and dermal bone formation. Using transgenic mice, researchers determined the derivation of cells that comprise cranial cartilages. The data advanced the understanding of cranial cartilage's role in intramembranous bone formation.
ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY
(2023)
Article
Anatomy & Morphology
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuze, Laurence Legeai-Mallet, Joan T. Richtsmeier
Summary: Achondroplasia, the most common chondrodysplasia in humans, is caused by FGFR3 gene mutations, resulting in skeletal and cartilage defects. This study investigated the effects of an FGFR3 mutation on embryonic cranial and pharyngeal cartilages using a mouse model of achondroplasia. The findings suggest that the mutation directly affects the development of these tissues and can indirectly impact cranial dermal bone development.
ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Maria Rovira, Roger Mateu, Jaume Sastre, Alexandre Robert-Moreno, Jim Swoger, Susan Motch Perrine, Kazuhiko Kawasaki, James Sharpe, Joan Richtsmeier, Neus Martinez-Abadias
Meeting Abstract
Biochemistry & Molecular Biology
Susan Motch Perrine, Kate Lesciotto, Kazuhiko Kawasaki, Emily Durham, Anastassia Stoykova, Tran Tuoc, Joan Richtsmeier
Meeting Abstract
Biochemistry & Molecular Biology
Emily Durham, Kazuhiko Kawasaki, Mizuho Kawasaki, Susan Motch Perrine, Joan Richtsmeier
Review
Developmental Biology
Susan M. Motch Perrine, Meng Wu, Greg Holmes, Bryan C. Bjork, Ethylin Wang Jabs, Joan T. Richtsmeier
JOURNAL OF DEVELOPMENTAL BIOLOGY
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
Kate M. Lesciotto, Susan M. Motch Perrine, Mizuho Kawasaki, Timothy Stecko, Timothy M. Ryan, Kazuhiko Kawasaki, Joan T. Richstmeier