Dysmorphic facial feature



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21 Sep Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods.


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Case Reports in Pediatrics


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A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder.

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Dysmorphic feature

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Description:In our study Case carrying this mild mutation had liver symptoms from 3-month-old, moderate cognitive delay and mild motor delay at 3. Low set ears are positioned below the horizontal line as illustrated in B. Maxillary retrusion is another way of thinking about mid-face hypoplasia. She was born with an uneventful, term delivery.

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