Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
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.
Raam
Manu S
MS
Howard Hughes Medical Institute and the National Institutes of Health, USA.
Solomon
Benjamin D
BD
Shalev
Stavit A
SA
Muenke
Maximilian
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D003398:Craniosynostoses / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D016142:Holoprosencephaly / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D035781:Siblings