Work

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

Year: 2010

Type: article

Abstract: Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis.

Source: American Journal of Medical Genetics Part C Seminars in Medical Genetics

DOI: 10.1002/ajmg.c.30234

Authors: Manu S. Raam, Benjamin D. Solomon, Stavit A. Shalev, Maximilian Muenke

Institutions: National Institutes of Health, Howard Hughes Medical Institute, National Human Genome Research Institute, Emek Medical Center

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,460