Abstract |
We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple café-au-lait spots. The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.
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Authors | N Al-Sannaa, C R Forrest, A S Teebi |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 101
Issue 3
Pg. 279-82
(Jul 01 2001)
ISSN: 0148-7299 [Print] United States |
PMID | 11424146
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2001 Wiley-Liss, Inc. |
Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Acrocephalosyndactylia
(pathology)
- Cafe-au-Lait Spots
(genetics, pathology)
- Craniofacial Dysostosis
(pathology)
- Ear
(abnormalities)
- Family Health
- Heart Septal Defects
(pathology)
- Humans
- Infant
- Limb Deformities, Congenital
(pathology)
- Male
- Microcephaly
(pathology)
- Micrognathism
(pathology)
- Syndactyly
(pathology)
- Syndrome
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