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

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.

Figure 1

Photographs of patients who have previously been described in the literature: (a) proposita described by Camera et al. (1993) [Camera et al. 1993]; (b) proposita described by Lapunzina et al. (2001) [Lapunzina et al. 2001] at 15 days of age, with particular attention called by those authors to the down-slanting palpebral fissures, midfacial hypoplasia, coronal craniosynostosis, low-set ears, facial asymmetry, and prominent metopic fontanel; (c) propositus described by Corona-Rivera et al. (2000) [Corona-Rivera et al. 2000]. All images used with permission of John Wiley & Sons, Inc.

Figure 2

Photographs of the newly described Patients 1 and 2: (a) frontal view of Patient 1, (b) 45° view of Patient 1, and (c) 45° view of Patient 2. Note the proptosis in both patients, the brachycephalic appearance of Patient 1 when compared to Patient 2, and the prominent metopic ridging in Patient 2.

Figure 3

Axial head CT sections of the newly described Patient 2: (a) showing midline brain anomalies consistent with HPE, possibly of the semilobar type; (b) showing the prominent metopic suture and trigonocephalic head shape.