Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern.
Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak. It is usually a sporadic disorder, although a few familial cases have been reported. We report here a three-generation family with multiple affected members with frontonasal dysplasia. This observation suggests autosomal dominant inheritance. Furthermore, some of the features e.g. over-riding toes, nail changes, vertical crease on plantar region of the feet in the index patient were not reported up to now.
Koçak
H
H
Division of Medical Genetic, SB Ankara Diskapi Children's Hospital, Ankara, Turkey.
Ceylaner
G
G
D002675:Child, Preschool; D002971:Cleft Lip; D002972:Cleft Palate; D003394:Craniofacial Dysostosis / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism; D009295:Nasal Bone / Q000002:abnormalities*; D010375:Pedigree