Dominant inheritance of hemifacial hyperplasia associated with strabismus

A case of familial isolated hemihyperplasia

“…Not all the reported families however would fit with an imprinting pattern of inheritance [13], but as the majority cases for BWS and hemihyperplasia remains unknown, these families could represent different molecular mechanisms caused by disturbance of balance between growth promoters and suppressors. Similarly, the reported families with isolated facial hemihyperplasia [14,16] do not fit with an imprinting pattern of inheritance. In summary, hemihyperplasia and similarly to what is seen BWS, is a heterogenoeus group of disorders possibly caused by different molecular mechanisms.…”

“…The transmission of the hemihyperplasia in this family could be compatible with autosomal dominant inheritance with incomplete penetrance, but given what we know about BWS, we propose that the hemihyperplasia in this family could also be the result of an imprinting defect. Of the familial cases of hemihyperplasia in the literature, seven had direct parent to child transmission [9,11,12,14-16]. However, in many of these families additional findings were also reported.…”

“…Rudolph and Norvold [11] reported a child, mother and grandmother each with facial asymmetry. Bencze et al [16] described a three-generation family with apparent autosomal dominant transmission of facial hemihyperplasia and strabismus. Burchfield and Escobar [14] reported a family with father to son transmission of facial asymmetry and severe malocclusion.…”

“…However, there have been several familial cases of BWS reported in the literature [7]. Isolated hemihyperplasia (likewise BWS) is usually sporadic with a low recurrence risk, however, there have been several reports of familial hemihyperplasia described in the literature with two or more affected relatives [8-16]. In this manuscript we describe a Tunisian family with several individuals affected with isolated hemihyperplasia.…”

Deciduous tooth crown size and asymmetry in strabismic children

“…Tooth size asymmetry with strabismus has been found earlier in hemifacial hyperplasia, and a model of dominant inheritance has been shown by Bencze et al. (5). The teeth provide an useful instrument for the study of developmental disorders because of their unique structure and a long period of sequential development.…”