Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.
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.
Keaton
Amelia A
AA
University of South Carolina, USA.
Solomon
Benjamin D
BD
van Essen
Anthonie J
AJ
Pfleghaar
Kathleen M
KM
Slama
Michael A
MA
Martin
Judith A
JA
Muenke
Maximilian
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D037881:Aborted Fetus / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D016142:Holoprosencephaly / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D011247:Pregnancy