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Journal of medical cases · 2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Abdelhady Eslam, Tobias Joseph D

Аннотация

Teebi hypertelorism syndrome (THS) is a rare, autosomal dominant craniofacial malformation disorder, characterized by orbital hypertelorism and characteristic craniofacial features, including a prominent forehead, wide arched eyebrows, short broad nasal root and tip, a thin upper lip, and a small chin. In addition to the characteristic phenotypic traits, systemic malformations may involve the limbs, central nervous system, urogenital tract, uterus, umbilicus (omphalocele), or cardiac system. Most cases can now be attributed to pathogenic variants in the SPECC1L gene on chromosome 22q11.23, leading to what is known as SPECC1L-related hypertelorism syndrome, which is associated with disruption of a cytoskeletal cross-linking protein. This protein is crucial for normal craniofacial morphogenesis during neural crest cell migration and midline facial formation. To date, there are no previous reports of anesthetic care in a patient with THS. We present a 4-year-old child with THS who presented for anesthetic care during thoracic laminectomy and excision of an intradural mass. We explore the history and clinical presentation of the disorder, outline end-organ involvement, and discuss perioperative concerns.

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

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