How to cite this article: Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. 2009. Mandibuloacral dysplasia type A in childhood. Am J Med Genet Part A 149A:2258–2264.
Mandibuloacral dysplasia type A in childhood†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2258–2264, October 2009
How to Cite
Garavelli, L., D'Apice, M.R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A. and Novelli, G. (2009), Mandibuloacral dysplasia type A in childhood. Am. J. Med. Genet., 149A: 2258–2264. doi: 10.1002/ajmg.a.33005
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 14 JUN 2009
- Manuscript Received: 13 MAR 2009
- mandibuloacral dysplasia;
- mandibuloacral dysplasia type A;
- bulbous fingertips;
- type A lipodystrophy
Mandibuloacral dysplasia type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5-year-old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4-year-old girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acro-osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, (p.R527H) in exon 9 of the LMNA gene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis. © 2009 Wiley-Liss, Inc.