Turner Syndrome (45X) may go unrecognized for some time. Recognition of facial features can aid early diagnosis and management. While certain features such as webbed neck are helpful they may only be seen in a subset of patients.
Eyes:
(1) ptosis
(2) strabismus
(3) epicanthal folds
(4) infra-orbital skin creases
Mouth:
(1) high-arched, narrow or dysmorphic palate
(2) limited mobility of the temporomandibular joint
(3) micrognathia
(4) retrognathia and malocclusion
(5) maxillary hypoplasia
Neck:
(1) short and wide
(2) webbed (present in around 20% of patients)
(3) limited mobility
Ears and hearing:
(1) chronic otitis media
(2) sensorineural hearing loss
(3) pinna deformity
(4) low-set, posteriorly rotated ears
Other:
(1) low posterior hairline
(2) obstructive sleep apnea
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