Brief Clinical Report
Lethal neonatal mandibuloacral dysplasia
Article first published online: 6 DEC 1998
Copyright © 1996 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 66, Issue 1, pages 52–54, 2 December 1996
How to Cite
Seftel, M. D., Wright, C. A., Po, P. L. W. and de Ravel, T. J.L. (1996), Lethal neonatal mandibuloacral dysplasia. Am. J. Med. Genet., 66: 52–54. doi: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P
- Issue published online: 6 DEC 1998
- Article first published online: 6 DEC 1998
- Manuscript Revised: 18 MAR 1996
- Manuscript Received: 9 OCT 1995
- mandibuloacral dysplasia;
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia. © 1996 Wiley-Liss, Inc.