Subtypes of frontonasal dysplasia are useful in determining clinical prognosis.

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Research Abstract Details 

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Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Abstract Text:

E Wu,K Vargevik,A M Slavotinek,E Wu,K Vargevik,A M Slavotinek,E Wu,K Vargevik,A M Slavotinek,

Frontonasal dysplasia [FND; OMIM 136760] results from abnormal morphogenesis of the frontonasal process with disruption of the formation of the facial midline. Craniofacial anomalies in FND include anterior cranium bifidum, ocular hypertelorism, orofacial clefting and notching or clefting of the alae nasi. The majority of FND cases are sporadic and discordance has been demonstrated in monozygotic twin pairs, arguing against a strong inherited component in pathogenesis. However, pedigrees with Mendelian inheritance and non-recurrent chromosome aberrations in FND patients demonstrate that gene mutations or cytogenetic imbalance can also be important in the etiology of this phenotype. We classified 101 reported cases of FND from the medical literature and three new cases into seven separate FND phenotypic subtypes in addition to isolated FND. Our aim was to evaluate FND patients for distinct phenotypes within the FND spectrum and to determine the evidence for a genetic etiology in each of the different subtypes. Our analysis showed significant differences in the severity of the accompanying malformations and the rates of learning disabilities in the FND subtypes, although the small patient numbers and method of patient ascertainment may have influenced the data. The results suggest that cases with FND should be evaluated for additional anomalies, as these may help to determine prognosis.

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Publishing Authors By Initials

E Wu,K Vargevik,AM Slavotinek,E Wu,K Vargevik,AM Slavotinek,E Wu,K Vargevik,AM Slavotinek,

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Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 3069-78

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4833

DAY: 15

MONTH: Dec

YEAR: 2007

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Information

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LANGUAGE: eng

NlmUniqueID: 101235741

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AFFILIATION: Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.

Country: United States

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MEDLINETA: Am J Med Genet A

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