How to cite this article: Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. 2008. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? Am J Med Genet Part A 146A:3198–3201.
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?†
Article first published online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3198–3201, 15 December 2008
How to Cite
Mégarbané, A., Samaras, L., Chédid, R., Chouery, E., Chrétien, D., Caillaud, C., Abou-Ghoch, J. and Jalkh, N. (2008), Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?. Am. J. Med. Genet., 146A: 3198–3201. doi: 10.1002/ajmg.a.32579
- Issue published online: 21 NOV 2008
- Article first published online: 14 NOV 2008
- Manuscript Accepted: 21 AUG 2008
- Manuscript Received: 17 JAN 2007
- Association Française contre la Myopathie (AFM)
We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial features that consist of frontal bossing, prominent eyes, slightly down-slanting palpebral fissures, hypertelorism, telecanthus, long eyelashes, gum hypertrophy, and pointed chin. In addition, they had short neck, abnormal thoracic configuration, wrinkled skin on the hands and abdomen, hepato-splenomegaly and neonatal spontaneous fractures. Their overall health and hepatic function deteriorated every time they had fever. The eldest boy died at the age of 18 months secondary to a hepatic failure. Laboratory exams did not reveal any anomaly except for the hepatic function. Differential diagnoses are discussed and the possibility that we might be reporting on a new metabolic syndrome is raised. © 2008 Wiley-Liss, Inc.