2017
DOI: 10.1136/archdischild-2016-312303
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‘Holes in the head’: a case of enlarged parietal foramina

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(2 citation statements)
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“…CBO has been given other designations, such as enlarged parietal foramina (if more than 5 mm in diameter), foramina parietalia permagna, fenestrae parietals symmetricae, or Catlin mark (due to the high incidence of this bone defect in the Catlin family, as described by Goldsmith, who observed this malformation in 16 members across five generations [ 1 - 4 , 11 , 12 ]. Its etiology has been attributed to an abnormality in intramembranous ossification during the fifth month of gestation, and several gene mutations have been described that make this condition hereditary in nature, such as loss of function mutations in human homeobox genes MSX2 in chromosome 5 and ALX4 in chromosome 11 [ 3 , 5 , 11 , 12 ]. Interestingly, a deletion in chromosome 11q24 and a mutation in ALX4 are two of the mutations described in association with syndromic trigonocephaly, and an increasing incidence of this craniosynostosis has been reported over the last two decades [ 8 , 9 , 13 ].…”
Section: Discussionmentioning
confidence: 99%
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“…CBO has been given other designations, such as enlarged parietal foramina (if more than 5 mm in diameter), foramina parietalia permagna, fenestrae parietals symmetricae, or Catlin mark (due to the high incidence of this bone defect in the Catlin family, as described by Goldsmith, who observed this malformation in 16 members across five generations [ 1 - 4 , 11 , 12 ]. Its etiology has been attributed to an abnormality in intramembranous ossification during the fifth month of gestation, and several gene mutations have been described that make this condition hereditary in nature, such as loss of function mutations in human homeobox genes MSX2 in chromosome 5 and ALX4 in chromosome 11 [ 3 , 5 , 11 , 12 ]. Interestingly, a deletion in chromosome 11q24 and a mutation in ALX4 are two of the mutations described in association with syndromic trigonocephaly, and an increasing incidence of this craniosynostosis has been reported over the last two decades [ 8 , 9 , 13 ].…”
Section: Discussionmentioning
confidence: 99%
“…The bone defect in the current case was round and anterior to the intersection of the sagittal and lambdoid sutures, and in relation to the superior sagittal sinus, with no midline ridge. Other reports have described this defect as having a thin bone ridge in the midline [ 2 , 3 , 5 ]. In addition, the anomalous communication between the vein of Galen and the superior sagittal sinus, called persistent falcine sinus, has been reported in association with CBO [ 2 ].…”
Section: Discussionmentioning
confidence: 99%