Results 51 to 60 of about 782 (173)

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, Volume 308, Issue 12, Page 3157-3174, December 2025.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Frontiers in Genetics, 2018
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy.
Domenico Roberti, Renata Conforti, Teresa Giugliano, Barbara Brogna, Immacolata Tartaglione, Maddalena Casale, Giulio Piluso, Silverio Perrotta   +7 more
doaj   +1 more source

Stabilization of the Cervical Spine in Spondyloepiphyseal Dysplasia Congenita [PDF]

, 1991
Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses.
Mark S. LeDoux, Patricia A. Aronin, Aronin, P. A., LeDoux, M. S., Richard C. Naftalis, Naftalis, R. C.   +5 more
core   +1 more source

Sagittal Cephalometric Characteristics in Females With Turner Syndrome in Comparison to Nonsyndromic Females: A Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 28, Issue 4, Page 593-604, August 2025.
ABSTRACT The present study aimed to assess the sagittal cephalometric characteristics in females with Turner syndrome (TS) as compared with nonsyndromic females. A literature search was carried out using six electronic databases to identify studies that compared the sagittal lateral cephalometric measurements in females with TS, with the last search ...
Kara Bierley, Gregory S. Antonarakis
wiley   +1 more source

Contribuição ao estudo das malformações occipito-cervical, particularmente da impressão basilar

Arquivos de Neuro-Psiquiatria, 1952
The authors outline the development of the spine and skull, particularly of axis, atlas and occipital bone. As neuro-skeletal dysmorphisms, the occipito-cervical malformations belong to the neurodysplastic group. They are classified as skeletal anomalies,
Horacio M. Canelas, José Zaclis, Rolando A. Tenuto   +2 more
doaj   +1 more source

Neurocranial Growth in the OIM Mouse Model of Osteogenesis Imperfecta [PDF]

, 2022
Research Appreciation Day Award Winner - 2022 School of Biomedical Sciences, Department of Physiology & Anatomy-Structural Anatomy & Rehabilitation Sciences - 1st PlaceOsteogenesis imperfecta (OI) is a disorder of type I collagen characterized by
Miller, Courtney, Organ, Jason, Menegaz, Rachel A., Husain, Tooba S., Handler, Emma, Steele, Ashley T., Gonzales, Lauren   +6 more
core  

Analysis of Failed Posterior Fossa Decompression and an Effective Revision Surgery in Patients with Basilar Invagination and Atlantoaxial Dislocation

Orthopaedic Surgery, Volume 16, Issue 12, Page 3088-3097, December 2024.
Posterior revision surgery in patients with BI‐AAD after posterior fossa decompression (PFD). (A) It aggravated instability and ventral compression when patients with BI‐AAD underwent PFD. (B) Posterior revision surgery using interarticular distraction technique and cage grafting will achieve effective reduction and symptom relief.
Maoyang Qi, Yueqi Du, Boyan Zhang, Zong Xin, Can Zhang, Zhenlei Liu, Jian Guan, Zuowei Wang, Fengzeng Jian, Wanru Duan, Zan Chen   +10 more
wiley   +1 more source

How differences in anatomy and physiology and other aetiology affect the way we label and describe speech in individuals with cleft lip and palate

International Journal of Language &Communication Disorders, Volume 59, Issue 6, Page 2181-2196, November/December 2024.
Abstract Background Speech in individuals with cleft lip and/or palate (CLP) is a complex myriad of presenting symptoms. It is uniquely associated with the structural difference of velopharyngeal insufficiency (VPI), together with a wide and heterogeneous range of other aetiologies which often co‐occur.
Valerie J Pereira, Debbie Sell
wiley   +1 more source

LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene

Aging Cell, Volume 23, Issue 8, August 2024.
This study delves into LEM domain nuclear envelope protein 2 (LEMD2)‐associated progeroid syndrome, elucidating its phenotypic and molecular aspects in the first female and fourth reported case. In vitro experiments using patient‐derived cells and LEMD2‐downregulated HepG2 cells revealed pronounced nuclear envelope abnormalities.
Alyssia Matter, Christina Kaufman, Nadia Zürcher, Daniela Lenggenhager, Patrice Grehten, Deborah Bartholdi, Laura Horka, Johannes Häberle, Georgios Makris   +8 more
wiley   +1 more source