Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/186898
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- Title
- A Lethal syndrome resembling branchio-oculo-facial syndrome
- Related
- Clinical genetics, Vol. 41, Issue 2, (1992), p.74-78
- DOI
- 10.1111/j.1399-0004.1992.tb03636.x
- Publisher
- Wiley-Blackwell Publishing
- Date
- 1992
- Author/Creator
- Hing, Anne V
- Author/Creator
- Torack, Richard
- Author/Creator
- Dowton, S. Bruce
- Description
- Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation (holoprosencephaly and meningo-encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio-oculo-facial syndrome, the complex may represent a new multiple malformation syndrome.
- Description
- 5 page(s)
- Subject Keyword
- BOF syndrome
- Subject Keyword
- BOR syndrome
- Subject Keyword
- Branchial cleft
- Subject Keyword
- Holoprosencephaly
- Subject Keyword
- Microphthalmia
- Subject Keyword
- Nasomaxillary dysplasia
- Resource Type
- journal article
- Organisation
- Macquarie University. Office of the Vice-Chancellor
- Identifier
- http://hdl.handle.net/1959.14/186898
- Identifier
- ISSN:0009-9163
- Identifier
- mq_res-ext-2-s2.0-0026516759
- Language
- eng
- Reviewed
