Anterior Fontanelle Wormian Bone With Exomphalos Major and Dysmorphic Facial Features

Abstract

Wormian bones are independent ossification centers found within cranial sutures or fontanelles. Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hypothyroidism, pyknodysostosis, cleidocranial dysostosis, rickets, and acrocallosal syndrome. These conditions encompass a large range of clinical features but there has only been 1 other reported patient of exomphalos occurring concurrently with these ossicles. The authors present the case of a child with an anterior fontanellar Wormian bone, dysmorphic facial features, and exomphalos major born to unaffected parents. The pattern of features seen in this child did not closely match any condition commonly associated with Wormian bones. The only other reported case of both Wormian bone and exomphalos was in a child with acrocallosal syndrome who presented with more severe dysmorphic features than seen here. It is possible that this patient represents a previously unknown association between acrocallosal syndrome and exomphalos or a less severe variant of the condition. Conversely, this patient may possibly illustrate a newly discovered association between Wormian bones, facial dysmorphism, and midline abdominal defects.

Incidence, number and topography of Wormian bones in Greek adult dry skulls

“…WBs in more posteriorly placed sutures are more prone to environmental factors in comparison to their more anteriorly placed counterparts which are under stronger genetic control [31]. WBs presence is associated with abnormal central nervous system development (microcephaly, macrocephaly, hydrocephalus, craniosynostosis, cerebral palsy, epilepsy and learning difficulties) and this may be a sign of early identification and treatment in affected paediatric population [29]. Moreover, their presence is particularly higher in non-symmetrical skulls with metopism [8].…”

“…Although WBs can be found in healthy individuals, they may also be observed in patients with a variety of congenital disorders, like osteogenesis imperfecta, cretinism, cleidocranial dysostosis and enlarged parietal foramina [23,24,28], as well as in patients with central nervous system abnormalities [29]. Their incidence varies among different populations and therefore these bones constitute an anthropological marker.…”

Anterior Fontanelle Wormian Bone/ Fontanellar Bone: A Review of this Rare Anomaly with Case Illustration

“…The relative rarity of wormian bones within the anterior fontanelle makes it difficult to establish any specific association between this occurrence and other syndromes. A recently published case report suggested a novel association between wormian bones involving the anterior fontanelle and severe facial dysmorphisms and midline abdominal defects [ 9 ]. Reid and colleagues described a neonate of Afghani origin who was born with a wormian bone in the anterior fontanelle, along with facial dysmorphic anomalies resulting in exophthalmos [ 9 ].…”

“…A recently published case report suggested a novel association between wormian bones involving the anterior fontanelle and severe facial dysmorphisms and midline abdominal defects [ 9 ]. Reid and colleagues described a neonate of Afghani origin who was born with a wormian bone in the anterior fontanelle, along with facial dysmorphic anomalies resulting in exophthalmos [ 9 ]. As this is a previously unreported association, it could either be a novel correlation or a concurrence of unrelated anomalies within the same patient.…”

Wormian Bone in the Anterior Fontanelle of an Otherwise Well Neonate

“…Cases of Wormian bones within the anterior fontanelle requiring medical or surgical intervention have been previously reported [4]. In addition, there have been reports of anterior fontanelle Wormian bones with other associated clinical findings such as exophthalmos or vascular malformations [5-6]. One small clinical study discussed the possibility of normal development in some children with the anterior fontanelle Wormian bone, but with many of the subjects requiring surgical intervention for craniosynostosis [7].…”