| Autor: |
Garavelli, L., DApice, 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., SupertiFurga, A., Novelli, G. |
| Zdroj: |
American Journal of Medical Genetics. Part A; October 2009, Vol. 149 Issue: 10 p2258-2264, 7p |
| Abstrakt: |
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 5yearold boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4yearold 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 acroosteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, p.R527H in exon 9 of the LMNAgene. 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 WileyLiss, Inc. |
| Databáze: |
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