Perspectives on craniofacial asymmetry. VI. The hamartoses.
The hamartoses are a large group of disorders with autosomal dominant inheritance or sporadic occurrence. The genes responsible for some have been localized to specific chromosomes and in several instances, genetic heterogeneity has been established. Thus neurofibromatosis and tuberous sclerosis are no longer single entities. For example, the gene for Type I neurofibromatosis is on chromosome 17 and the gene for Type II is on chromosome 22. In this paper, genetic aspects of the hamartoses are updated and asymmetry is discussed in Sturge-Weber angiomatosis, epidermal nevus syndrome, Gardner syndrome, neurofibromatosis, and Proteus syndrome.
Cohen
M M
MM
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002895:Chromosomes, Human, Pair 5; D005146:Facial Asymmetry / Q000209:etiology*; D005736:Gardner Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D017253:Neurofibromatoses / Q000150:complications / Q000235:genetics / Q000473:pathology; D009508:Nevus, Pigmented / Q000150:complications / Q000151:congenital / Q000235:genetics; D016715:Proteus Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000151:congenital / Q000235:genetics; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology; D013577:Syndrome