Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.

Abstract

Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combination of these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here). While the findings in these patients overlap with previously described genetic conditions, the similarity in phenotypes among these patients has led to the establishment of a at least one distinct syndrome: HPE, ectrodactyly, and bilateral cleft lip-palate syndrome (OMIM 300571). There has been great interest in identifying a genetic cause for the findings in patients with HPE and ectrodactyly; however the cause(s) of this rare association still remain unknown.

• Authors: Amelia A Keaton, Benjamin D Solomon, Anthonie J van Essen, Kathleen M Pfleghaar, Michael A Slama, Judith A Martin, Maximilian Muenke
• Journal: American journal of medical genetics. Part C, Seminars in medical genetics (Am J Med Genet C Semin Med Genet) Vol. 154C Issue 1 Pg. 170-5 (Feb 15 2010) ISSN: 1552-4876 [Electronic] United States
• PMID: 20104609 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Intramural, Review)
• Copyright: 2010 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Aborted Fetus (abnormalities)
• Child
• Child, Preschool
• Cleft Lip (complications, diagnosis, genetics)
• Cleft Palate (complications, diagnosis, genetics)
• Female
• Hand Deformities, Congenital (complications, diagnosis, genetics)
• Holoprosencephaly (classification, complications, diagnosis, genetics)
• Humans
• Male
• Pregnancy