Mandibuloacral dysplasia type A in childhood.

Détails

ID Serval
serval:BIB_3CD5DFEF2293
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Mandibuloacral dysplasia type A in childhood.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
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.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2009
Volume
149A
Numéro
10
Pages
2258-2264
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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.
Mots-clé
Age of Onset, Bone Diseases, Developmental/congenital, Bone Diseases, Developmental/diagnosis, Child, Preschool, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities/epidemiology, Female, Humans, Lipodystrophy/complications, Lipodystrophy/congenital, Male, Mandibular Diseases/complications, Mandibular Diseases/congenital
Pubmed
Création de la notice
14/03/2011 16:09
Dernière modification de la notice
20/08/2019 13:33
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