The features of Treacher Collins syndrome along with correlation with the present case Clinical features of TCS For the Our Case Absent (-)/Present(+) Hypoplasia of the zygomatic bones + Hypoplasia of the mandible + Microtia + Conductive hearing loss + External auditory canal atresia/stenosis + Hypoplasia of middle ear ossicles + Cleft palate with or without cleft lip - Preauricular hair displacement - Antimongoloid
slant of palpebral fissures + Lower eyelid abnormalities Coloboma - Sparse or absent eyelashes + Ophtalmologic defects - TCS: Treacher Collins Syndrome
slant may be seen in Down, Turner, trisomy 17-18, Apert, Smith Lemli Opitz, Noonan and Treacher Collins syndromes.
Treacher Collins syndrome mainly differs by macrostomia, cleft palate, and antimongoloid
slant of the eyes .
Eye involvement presents with epibulbar dermoid/lipodermoid, microphthalmia, anophthalmia, cataract, astigmatism, antimongoloid
obliquity of palpebral fissures, blepharophimosis and colobomata of the upper eyelid, iris, and retina.
Eye signs: drooping eyelids, myopia, or antimongoloid
Hastanin bas boyun muayenesinde, burun koku basik ve genis, antimongoloid
yuz gorunumu, dental anomaliler, dusuk kulak ve hipoplazik maksilla tespit edildi (Resim 1).
Eye signs: drooping eyelids or myopia or antimongoloid
The facies is characterized by progressive coarsening of the facial features, along with hypertelorism, antimongoloid
slanting of the palpebral fissures, prominent supraorbital ridges, short and anteverted nares, open mouth (in males), pouty lower lip, thick bulging chin, and protuberant ears.
This early fusion preventing skull growth also shows facial dysmorphism including a long narrow head, Hypertelorism, bilateral Exophthalmos, antimongoloid
slant of a palpebral fissure, a high arched palate, severe mandibular hypoplasia and narrow maxilla, low set ears.