[Holt-Oram syndrome associated with facial anomalies. A case report]

Area of Science:

• Genetics and Developmental Biology
• Clinical Medicine and Human Genetics

Background:

• Cardiomyelic syndromes encompass skeletal malformations of the upper limb and congenital heart disease, often linked to mutations in T-box transcription factors.
• Holt-Oram syndrome, an autosomal dominant disorder, is characterized by upper-extremity malformations (radial, thenar, carpal bones) and congenital heart defects, typically associated with mutations in the TBX5 gene on chromosome 12.

Observation:

• This report presents an unusual case of Holt-Oram syndrome.
• The patient exhibited typical upper-extremity and cardiac anomalies alongside distinct facial dysmorphic features, including right-sided hemifacial microsomia, prominent forehead, hypertelorism, depressed nasal bridge, low-set ears, and micrognathia.

Findings:

• The case expands the known phenotypic spectrum of Holt-Oram syndrome.
• Facial dysmorphic features are delineated, highlighting a broader range of clinical presentations associated with TBX5 gene mutations.

Implications:

• This broadened clinical spectrum aids in more comprehensive diagnosis and genetic counseling for Holt-Oram syndrome.
• Further research into genotype-phenotype correlations may reveal new insights into the role of TBX5 in craniofacial development.