Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

@article{AbdelSalam2011MuenkeSW,
  title={Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.},
  author={Ghada M H Abdel-Salam and Laura Flores-Sarnat and Mona Omar El-Ruby and Jillian Parboosingh and Peter Bridge and Maha M Eid and Tarek H. El-Badry and Laila Kamal El-Din Effat and Paolo Curatolo and Samia Ali Temtamy},
  journal={American journal of medical genetics. Part A},
  year={2011},
  volume={155A 1},
  pages={207-14}
}
We describe a 2-year-old boy born to healthy, consanguineous parents. He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears. In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one hyperpigmented patch in the groin without acanthosis nigricans. Cranial three-dimensional CT scan showed right-coronal, sagittal, and lambdoid suture synostoses. His cranial MRI at 2-months of age showed left… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 30 references

Similar Papers

Loading similar papers…