A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome

Lam, Kevin; Cassidy, Benjamin; Arreola, Rolando; Saif, Hind Al; King, Kayla C.; Couser, Natario L.

doi:10.3928/01913913-20220825-01

Cited by 2 publications

(1 citation statement)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The PubMed, Web of Science, and Embase databases were searched using the keywords "BOFS" and "neonate or newborn." From the time the database was established until April 2023, a total of 12 papers, including 16 cases with complete medical information, were searched for the diagnosis of BOFS in the neonatal period, [3][4][5][6][7][8][9][10][11][12][13][14] plus the case reported, making a total of 17 cases. The 17 cases included 5 males and 12 females, 7 preterm and 10 term infants.…”

Section: Literature Reviewmentioning

confidence: 99%

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

Luo,

Lu,

Zhao

et al. 2023

Medicine

View full text Add to dashboard Cite

Rationale: Branchiooculofacial syndrome (BOFS) is a rare autosomal dominant disorder with a diverse clinical phenotype. To summarise the clinical characteristics and genetic variations of neonatal-onset BOFS through a case study and literature review. Patient concerns: A preterm neonate with a very low birth weight, born at a gestational age of 29+3 weeks, exhibited cosmetic abnormalities at a postmenstrual age of 34+6 weeks, including microcleft lip, high arched palate, curved upper lip, low ear position, and ocular hypertelorism. Hence, a genetic test on peripheral blood was carried out. Diagnoses: The genetic testing showed a heterozygous variant of c.724G > A (p.Glu242Lys) in the exon 4 region of the TFAP2A (transcription factor AP-2-α) gene in the short arm of chromosome 6. BOFS was confirmed based on clinical appearance and the genetic result. Interventions: The patient underwent solely cleft lip repair at the age of 6 months with no further intervention. Outcomes: The infant shows normal growth and development at 1 year of age and subsequent follow-up. Lessons: The characteristic facial features, branchial skin defects, and ocular anomalies are the main clinical manifestations of BOFS with neonatal onset, but the diverse clinical phenotype and variable genetic variants pose certain challenges for clinical diagnosis.

show abstract

Section: Literature Reviewmentioning

confidence: 99%

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

Luo,

Lu,

Zhao

et al. 2023

Medicine

View full text Add to dashboard Cite

show abstract

Defining the progeria phenome

Worm,

Schambye,

Mkrtchyan

et al. 2024

Aging

View full text Add to dashboard Cite

Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. Due to the large variation in clinical presentation the diseases pose a diagnostic challenge for clinicians which consequently restricts medical research. To accommodate the challenge, we compiled a list of known progeroid syndromes and calculated the mean prevalence of their associated phenotypes, defining what we term the 'progeria phenome'. The data were used to train a support vector machine that is available at https://www.mitodb.com and able to classify progerias based on phenotypes. Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. We detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong association to progeroid syndromes, thereby implying that the syndromes are previously unrecognized progerias. In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them.

show abstract

A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome

Cited by 2 publications

References 62 publications

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

Defining the progeria phenome

Contact Info

Product

Resources

About