Three patients resembling Teebi-Shaltout syndrome

Area of Science:

• Genetics
• Rare Diseases
• Clinical Medicine

Background:

• Teebi-Shaltout syndrome (TSS) was first described in 1989, with limited subsequent case reports.
• The syndrome is hypothesized to follow an autosomal recessive inheritance pattern.
• Previous descriptions highlight craniofacial, orodental-ectodermal, and skeletal anomalies.

Observation:

• This report details three new patients from two unrelated families exhibiting features consistent with TSS.
• The observed clinical manifestations align with previously documented characteristics of the syndrome.
• Consanguinity and affected siblings in both genders were noted in the studied families.

Findings:

• The findings support the existence of Teebi-Shaltout syndrome (TSS) and expand the understanding of its phenotypic spectrum.
• The new cases suggest that TSS may represent a genetically and phenotypically heterogeneous group of disorders.
• Autosomal recessive inheritance is further supported by the observed family structures.

Implications:

• This research contributes to the diagnostic criteria and understanding of rare genetic syndromes.
• Further genetic and clinical investigations are warranted to elucidate the specific genetic underpinnings and heterogeneity of TSS.
• Improved recognition of TSS can aid in genetic counseling and family planning for affected individuals.