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Mégarbané, A. et al.

Mégarbané, Hersh, Chouery, Fabre,

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

A sister and a brother with anomalous skull configuration, facial abnormalities, abnormal scalp hair growth, sensorineural hearing loss and, in the boy, proven craniosynostosis, severe mental retardation, and autism were reported in 1986 in an abstract by Hersh et al. We reexamined this family and here review the literature focusing on the major clinical findings, and suggest that their clinical manifestations may represent a previously unreported syndrome.[1]

References

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs. Mégarbané, A., Hersh, J.H., Chouery, E., Fabre, M. Am. J. Med. Genet. (2002) [Pubmed]

Annotations and hyperlinks in this abstract are from individual authors of WikiGenes or automatically generated by the WikiGenes Data Mining Engine. The abstract is from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg