Case Report

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review

Table 1

Clinical features of EvC, WAD, and the current patient.

FeatureEvCWADThe current patient

Postaxial polydactyly++
Short stature++
Short hands++
Nail dysplasia+++, but mildly
Multiple frenula++
Tooth abnormalities++
Hypodontia++
Motor delay+, but rarely+
Retarded brain development+, but rarely+
Mildly hypermyotonia+
Hair change++
Cardiac malformations+
Abnormalities of other organs+

EvC, Ellis-van Creveld syndrome; WAD, Weyers acrofacial dysostosis; +, present; —, not present.