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| NEWLY RECOGNIZED AUTOSOMAL-DOMINANT DISORDER WITH CRANIOSYNOSTOSIS |
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| Author(s): WARMAN ML, MULLIKEN JB, HAYWARD PG, MULLER U |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 46 Issue: 4 Pages: 444-449 Published: JUN 1 1993 |
| Times Cited: 46 References: 17 |
| Abstract: We report a family with a newly recognized form of autosomal dominant craniosynostosis. The disorder has high penetrance and variable expression with respect to sutural involvement and cranial abnormalities, ranging from fronto-orbital recession to cloverleaf skull deformity. Associated problems included headache, poor vision, and seizures; intelligence, however, is normal. Assignment of a well-described syndromic designation, e.g., Crouzon, Pfeiffer, Saethre-Chotzen, or Jackson-Weiss, is precluded based upon the absence of characteristic changes, i.e., mid-facial hypoplasia, orbital hypertelorism, blepharoptosis, hand anomalies, or foot anomalies. The large size of this family and high penetrance of the disorder suggests that this may be an excellent candidate for positional cloning of a locus important in craniofacial development. |
| Document Type: Article |
| Language: English |
| Reprint Address: WARMAN, ML (reprint author), HARVARD UNIV, SCH MED, CHILDRENS HOSP, DIV GENET, ENDERS 5, 300 LONGWOOD AVE, BOSTON, MA 02115 USA |
Addresses:
1. UNIV GIESSEN, INST HUMAN GENET, W-6300 GIESSEN, GERMANY
2. HARVARD UNIV, SCH MED, CHILDRENS HOSP, DIV PLANT SURG, CTR CRANIOFACIAL, BOSTON, MA 02115 USA |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: LD361 |
| ISSN: 0148-7299 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |