PMC6348808_01
Microdeletion syndrome involving 8q22.2q22.3. Female patient at the age of 10 years with microcephaly, triangular face, arched eyebrows, blepharophimosis, bilateral epicanthic fold, oblique palpebral fissures, midface hypoplasia, nostrils hypoplasia, short philtrum, thin upper lip, and down-turned corners of the mouth.
CRIG2019-7608348.001.jpg
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fig1
Currently, at the age of 10, she persists with the same facial dysmorphisms, severe short stature (110 cm -2SD), microcephaly (OFC 46 cm -2SD), small hands, short thumbs, bilateral fifth finger clinodactyly, severe cognitive impairment, absent of fluent speech, easy distractibility, and inadequate attention.  Figure 1 shows the phenotypic findings described in this case.