Mandibulo-acral dysplasia: heterogeneity versus variability.
Several patients with mandibulo-acral dysplasia have been described, although it is becoming clear that the phenotype is quite variable, both with regards to clinical findings and age of onset. This is a review of the literature on mandibulo-acral dysplasia, as well as a discussion on variability versus heterogeneity in this entity.
Toriello
H V
HV
Butterworth Hospital, Grand Rapids, MI 49503, USA.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008875:Middle Aged; D010641:Phenotype; D013577:Syndrome