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Mandibuloacral dysplasia type A in childhood
American Journal of Medical Genetics, 09/18/09
Garavelli L et al. – 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.
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