A microdeletion at 3q26.33-3q27.2 may be associated with a number of abnormal clinical findings.

Clinical features:

(1) neonatal hypotonia

(2) severe feeding problems

(3) abnormal facies (see below)

(4) abnormal dentition

(5) recurrent upper airway infections

(6) developmental delay

(7) severe growth impairment

(8) thin skin

(9) anomalies of the limbs

(10) genital anomalies

(11) hypotrophic muscles


Abnormal facial features may include:

(1) flat facial profile

(2) decreased hairs in the medial eyebrow

(3) epicanthal folds

(4) flat nasal bridge

(5) flat nasal tip

(6) anteverted nares

(7) short philtrum

(8) downturned corners of the mouth

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