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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\u2010year\u2010old boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4\u2010year\u2010old 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\u2010osteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G&gt;A, (p.R527H) in exon 9 of the <jats:italic>LMNA<\/jats:italic> 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. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33005","type":"journal-article","created":{"date-parts":[[2009,9,17]],"date-time":"2009-09-17T01:36:06Z","timestamp":1253151366000},"page":"2258-2264","source":"Crossref","is-referenced-by-count":48,"title":["Mandibuloacral dysplasia type A in 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