Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.

@article{Simha2003GeneticAP,
  title={Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.},
  author={Vinaya Simha and Anil kumar Agarwal and Elif A Oral and J E Fryns and Abhimanyu Garg},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 6},
  pages={2821-4}
}
Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Patients with MAD develop two patterns of lipodystrophy: type A pattern, with loss of sc fat… CONTINUE READING