title: Mandibuloacral dysplasia type A in childhood.
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.
authors.affiliation: Clinical Genetic Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
authors.forename: L
authors.initials: L
authors.lastname: Garavelli
authors.forename: M R
authors.initials: MR
authors.lastname: D'Apice
authors.forename: F
authors.initials: F
authors.lastname: Rivieri
authors.forename: M
authors.initials: M
authors.lastname: Bertoli
authors.forename: A
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: C
authors.initials: C
authors.lastname: Gelmini
authors.forename: V
authors.initials: V
authors.lastname: De Nigris
authors.forename: E
authors.initials: E
authors.lastname: Albertini
authors.forename: S
authors.initials: S
authors.lastname: Rosato
authors.forename: R
authors.initials: R
authors.lastname: Virdis
authors.forename: E
authors.initials: E
authors.lastname: Bacchini
authors.forename: R
authors.initials: R
authors.lastname: Dal Zotto
authors.forename: G
authors.initials: G
authors.lastname: Banchini
authors.forename: L
authors.initials: L
authors.lastname: Iughetti
authors.forename: S
authors.initials: S
authors.lastname: Bernasconi
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D017668:Age of Onset; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D008297:Male; D008336:Mandibular Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology