Mandibuloacral dysplasia type A in childhood

L. Garavelli, M. R. D'Apice, F. Rivieri, M. Bertoli, A. Wischmeijer, C. Gelmini, V. De Nigris, E. Albertini, S. Rosato, R. Virdis, E. Bacchini, R. Dal Zotto, G. Banchini, L. Iughetti, S. Bernasconi, A. Superti-Furga, G. Novelli

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)2258-2264
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number10
DOIs
Publication statusPublished - Oct 2009

Keywords

  • Acro-osteolysis
  • Bulbous fingertips
  • LMNA
  • MADA
  • Mandibuloacral dysplasia
  • Mandibuloacral dysplasia type A
  • Type A lipodystrophy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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  • Cite this

    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., & Novelli, G. (2009). Mandibuloacral dysplasia type A in childhood. American Journal of Medical Genetics, Part A, 149(10), 2258-2264. https://doi.org/10.1002/ajmg.a.33005