Review
Endocrinology & Metabolism
Giovanni Prezioso, Maddalena Petraroli, Michela Bergonzani, Giusy Davino, Marialuisa Labate, Francesca Ormitti, Marilena Anghinoni, Enrico Sesenna, Susanna Esposito
Summary: Duplication of the pituitary gland (DPG)-plus syndrome is a rare developmental disorder characterized by multiple midline and central nervous system malformations, as well as endocrine abnormalities. Early diagnosis and appropriate management of pubertal anomalies are crucial for patients with this syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Christopher J. Conlon, Amjed Abu-Ghname, Anjali C. Raghuram, Matthew J. Davis, Diana E. Guillen, V. Reid Sutton, Claudia M. B. Carvalho, Renata S. Maricevich
Summary: Robinow syndrome is characterized by limb shortening, hemivertebrae, and genital hypoplasia, with craniofacial abnormalities being broadly described but lacking detailed descriptions of genotype-specific features. A study evaluated 13 patients with Robinow syndrome, finding gingival hyperplasia to be nearly ubiquitous, while other craniofacial anomalies such as orbital hypertelorism, nose shortening, and cleft palate were observed in individuals with both dominant and recessive forms. This comprehensive analysis aimed to correlate phenotypic manifestations with underlying genotype for early recognition and evaluation of patients with Robinow Syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Public, Environmental & Occupational Health
Anita Fekonja, Andrej Cretnik
Summary: Hypodontia has a significant impact on dentofacial features, including retruded lips, tooth position, and facial convexity. The severity of the impact is related to the number of missing teeth, with 5 or more congenitally missing teeth having a greater effect on facial aesthetics.
FRONTIERS IN PUBLIC HEALTH
(2022)
Review
Dentistry, Oral Surgery & Medicine
Samantha Gee, Maryam Ezzeldin, Jacob Curtis, Victoria J. Clark, Jacqueline Smallridge, Mechelle Collard
Summary: This study investigates the prevalence of medical conditions affecting patients with cleft lip and/or palate in three cleft units in the UK. The results showed that 38.9% of patients had associated medical conditions. The study highlights the impact of these medical conditions on dental care complexity for these patients.
BRITISH DENTAL JOURNAL
(2023)
Article
Medicine, General & Internal
Nitya M. Nair, Daniel T. Swarr, Maria E. Barnes-Davis
Summary: Diprosopus is an extremely rare congenital anomaly involving craniofacial duplication, with unknown etiology and pathophysiology, and no definitive genetic mutations associated with the condition. Prenatal diagnosis is crucial in detecting and managing similar conditions.
CLINICAL CASE REPORTS
(2021)
Article
Biology
Shaun R. Abrams, Jeremy F. Reiter
Summary: Through studying mouse models of human ciliopathies, it was found that ciliary Hedgehog signaling mediates communication between the prechordal plate and the neurectoderm, providing essential cellular survival cues for development of the facial midline.
Article
Genetics & Heredity
Vivian Reinhold, Stina Syrjanen, Minna Kankuri-Tammilehto
Summary: This study reports a severe case of oligodontia in a female patient with the EDA gene variant c.742-2A>G. The results strongly suggest that this variant is pathogenic and the oligodontia in the patient is exceptionally severe. Early identification of this variant is crucial for planning adequate treatment and follow-up.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick
Summary: Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A, characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures, and typical facial features. Intracranial anomalies are infrequent, with a report describing a rare case with holoprosencephaly.
FRONTIERS IN GENETICS
(2021)
Review
Pediatrics
Maisa Malta, Rowim AlMutiri, Christine Saint Martin, Myriam Srour
Summary: Holoprosencephaly (HPE) is a common malformation of the prosencephalon, characterized by a continuum of brain anomalies caused by midline cleavage failure. The severity of HPE phenotype ranges widely and correlates with radiologic and facial features. Both environmental and genetic factors contribute to the etiology of HPE, with disruption of the SHH signaling pathway being the main pathophysiological mechanism.
Article
Dentistry, Oral Surgery & Medicine
W. Awotoye, C. Comnick, C. Pendleton, E. Zeng, A. Alade, P. A. Mossey, L. J. J. Gowans, M. A. Eshete, W. L. Adeyemo, T. Naicker, C. Adeleke, T. Busch, M. Li, A. Petrin, J. Olotu, M. Hassan, J. Pape, S. E. Miller, P. Donkor, D. Anand, S. A. Lachke, M. L. Marazita, A. A. Adeyemo, J. C. Murray, D. Albokhari, N. Sobreira, A. Butali
Summary: Through genome-wide gene x sex interaction study in a sub-Saharan African population with orofacial clefts, a novel risk locus on chromosome 8p22 with sex-specific effects was identified. The genetic variant at this locus showed different impacts on the risk of cleft lip with or without cleft palate between males and females. The locus contains genes related to craniofacial development and rare coding mutations, supporting its role in the genetic etiology of nonsyndromic orofacial clefts.
JOURNAL OF DENTAL RESEARCH
(2022)
Review
Pediatrics
Moritz Blanck-Lubarsch, Dieter Dirksen, Reinhold Feldmann, Ariane Hohoff
Summary: This review presents the facial, oral, dental or orthodontic findings and diagnostic tools related to fetal alcohol spectrum disorder. It found that there are heterogeneous guidelines and parameters for diagnosis, and there is a need for uniform and objective diagnostic criteria for the orofacial region. A bio database with values and parameters for different ethnicities and age groups should be made available for diagnosis.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M. Alhashem, Steve Lisgo, Alberto Fernandez-Jaen, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F. Smithson, Susan Lindsay, Hayley J. Sharpe, Fowzan S. Alkuraya, Geoff Woods
Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.
JOURNAL OF MEDICAL GENETICS
(2022)
Review
Genetics & Heredity
Seth M. Weinberg
Summary: Nonsyndromic orofacial clefts are complex congenital malformations with a multifactorial etiology. The face shape hypothesis (FSH) provides a theoretical explanation for the development of this malformation. Studies have shown changes in facial prominence shape during embryonic development in mice and altered post-natal facial shape in individuals at risk for orofacial clefting, revealing genes associated with orofacial clefting. Research on the FSH contributes to our understanding of the etiology of orofacial clefts.
FRONTIERS IN GENETICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
R. Xu, Y. Liu, Y. Zhou, W. Lin, Q. Yuan, X. Zhou, Y. Yang
Summary: This study investigates the role of the Gnas gene in calvaria development in mice and reveals that loss of Gnas leads to craniosynostosis and activation of Hedgehog signaling is associated with cartilage ossification. Reduction of Hedgehog signaling could be a potential intervention to reduce skull deformity in craniosynostosis.
JOURNAL OF DENTAL RESEARCH
(2022)
Article
Biotechnology & Applied Microbiology
Yaohui Liang, Chao Song, Jieli Li, Ting Li, Chunlei Zhang, Yi Zou
Summary: This study used morphometric analysis to examine craniofacial deformities in Mid1 knockout mice and found similar facial abnormalities to Opitz syndrome patients.