Overview
Temtamy syndrome, often associated with distal deletions at 22q11.2, presents with a phenotype overlapping Craniofacial Microsomia (CFM), characterized by craniofacial anomalies, congenital heart defects, and other systemic abnormalities 1.Diagnosis
Key Phenotypic Features: Bilateral preauricular tags, auditory canal stenosis, malar hypoplasia, cleft lip and palate, facial asymmetry, congenital heart disease, intestinal atresia, annular pancreas, and hydronephrosis 1.
Genetic Testing: Recommended for confirmation; use Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) to detect deletions in the 22q11.2 region 1.Management
Surgical Interventions: Address specific anomalies such as cleft lip and palate repair, cardiac defects, and gastrointestinal anomalies as indicated 1.
Cardiac Care: Management of congenital heart diseases with standard pediatric cardiology protocols 1.
Supportive Care: Multidisciplinary approach including pediatric surgery, cardiology, genetics, and neonatology 1.Special Populations
Pediatrics: Early intervention is crucial for managing multiple congenital anomalies including craniofacial and cardiac defects 1.
Comorbidities: Comprehensive care addressing concurrent conditions like intestinal atresia and hydro/nephrosis is essential 1.Key Recommendations
Perform genetic testing with MLPA and CMA to diagnose distal 22q11.2 deletions in patients presenting with CFM-like phenotypes (Evidence: Moderate 1).
Implement a multidisciplinary team approach for comprehensive management of Temtamy syndrome, encompassing surgical, cardiological, and genetic interventions (Evidence: Expert opinion 1).
Evaluate and manage congenital heart defects and other systemic anomalies promptly in pediatric patients (Evidence: Moderate 1).References
1 Spineli-Silva S, Bispo LM, Gil-da-Silva-Lopes VL, Vieira TP. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. European journal of medical genetics 2018. link
2 Jansen O, Mehrabi VA, Sartor K. Neuroradiological findings in adult cranially conjoined twins. Case report. Journal of neurosurgery 1998. link
3 Cameron DE, Reitz BA, Carson BS, Long DM, Dufresne CR, Vander Kolk CA et al.. Separation of craniopagus Siamese twins using cardiopulmonary bypass and hypothermic circulatory arrest. The Journal of thoracic and cardiovascular surgery 1989. link