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Treacher Collins syndrome

Summary of Treacher Collins syndrome
Treacher Collins syndrome is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.

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Treacher Collins syndrome

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High Yield Notes
7 pages
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Treacher Collins syndrome

9 flashcards
Questions

USMLE® Step 1 style questions USMLE

1 questions
Preview

A female newborn is delivered at 32 weeks’ gestation and the infant has some immediately noticeable abnormalities. The patient shows a small mandible and other facial abnormalities. Lateral cephalometric radiography shows hypoplasia of the facial bones and occipitomental radiography shows hypoplasia or discontinuity of the zygomatic arch. Genetic testing confirms a mutation in TCOF1 gene. Which of the following is the most likely diagnosis?

External References