Congenital Craniofacial Deformities: Spectrum of Multidetector Computed Tomographic Findings

Ahmed M Abougabal MD, Radiology, Children Hospital of Eastern Ontario & Faculty of Medicine, Alexandria University, Alexandria, Egypt, Mohamed H Zahran MD,PhD, Ali A Abdelkarim MD,PhD, Alaa Abdelhamid MD,PhD, Faculty of Medicine, Alexandria University, Egypt and Michel E Azouz MD,FRCPC, University of Ottawa, Ottawa, Ontario, Canada.

Case (4): Case (5): Plagiocephaly Case (6): Introduction: Case (7): Imaging of craniofacial deformities is considered as one of the challenges for the radiologists. As reported in (1), Gorlin classified them into (either syndromic as Apert and Crouzon syndrome or non syndromic), craniofacial clefts, and anomalies of the pharyngeal arches as Treacher Collins syndrome and hemifacial microsomia. Cross sectional imaging modalities including computed tomography (CT) and magnetic resonance (MR) are frequently used in the evaluation of these deformities. Because of its superior visualization of bones, CT is the gold standard imaging modality in preoperative as well as in post-operative evaluation of these deformities. The advent of multidetector CT scanner with its excellent multiplanar and three dimensional reconstruction capability has opened a new era in imaging of these lesions. A B C DE G ABC Purpose: To present the multidetector CT imaging findings of the different types of congenital craniofacial deformities. Figure (6): Apert syndrome: A 10-day-old child presenting with craniofacial deformity. 3D reconstructed volume rendered CT images (A&B) show evidence of oxycephalic configuration Figure(4): A 6 –month- old male presenting with plagiocephalic oblique configuration of the . (A&B) ABof the skull due to bilateral coronal craniosynostosis sparing the most medial portions of the sutures. The sagittal and metopic sutures are widened forming a bony gap in the skull. This volume rendered reconstructed CT images and (C) axial bone window image showing unilateral left is associated with marked hypoplasia of the mid face. Axial bone window CT scan (C) shows evidence of shallow orbital cavities associated with proptosis, widened lateral orbital A B C coronal bony synostosis. The left ear is seen anterior in location to the right ear which is an important Methods and Materials: Twenty children presenting clinically with different types of congenital craniofacial deformities Figure (5): A 1 -year-old female presenting with plagiocephaly. angles and frontalizaton of the greater wings of sphenoid bones bilaterally. Axial T2W MRI (D) shows traction ventriculomegaly of the lateral ventricles. Thinning of the corpus callosum Figure (7): Crouzon syndrome: A 6-month- old boy presenting with craniofacial deformity and proptosis . 3D sign in differentiating it from positional plagiocephaly. were studied with axial CT ( one mm section thickness) . All cases were examined by multidetector CT scanners. Three MIP and volume rendered CT (A&B) reconstructed images is seen in the T1W sagittal image (E). reconstructed CT images (A&B) showed evidence of bilateral coronal synostosis and hypoplastic mid face . The show synostosis of the lambdoid and coronal sutures on the left dimensional volume rendered and maximum intensity projection images as well as multiplanar sagittal and coronal Plain X-ray of foot and hand (G) shows evidence soft tissue , which is pathognomonic for Apert syndrome. sagittal and lambdoid sutures are patent. Axial CT bone window (C) showed shallow orbital cavities with reconstructed images were obtained. Four of these cases were examined by magnetic resonance imaging (MRI) for side. proptosis optimal assessment of associated intracranial anomalies. Results: Based on the CT and clinical findings we classified the patients into the following groups: Case (11): Case (8): : Case (9): Cleft maxilla Case (10): Nasal cleft Case (12): Hemifacial microsomia 1) Eleven patients with craniosynostosis, six of whom were diagnosed to be non- syndromic including two cases of , one case of and three cases of plagiocephaly. The other five patients were proved to be syndromic, four were diagnosed as Apert syndrome and one was diagnosed as Crouzon syndrome.

2) Four cases of facial clefts, one was diagnosed as frontonasal dysplasia showing a sizable midline facial cleft associated with agenesis of corpus callosum and interhemispheric lipoma as confirmed by MRI. Another case was associated with hypotelorism and was diagnosed as semilobar holoprosencephaly by MRI. The third patient had a midline nasal cleft, and the fourth had a midline premaxillary cleft.

3) Five patients with pharyngeal arch anomalies included a case of hemifacial microsomia, a case of Treacher Collins syndrome, two cases of mandibular hypoplasia and one patient with microtia. AB C CD A B C A B C AB AB Figure (11): A 1-month-old boy showing complete cleft lip and palate with Figure(12): A 3 –year- old male presenting with left hemifacial microsomia. 3D volume rendered reconstructed Figure(8): Frontonasal dysplasia: A 5-year- old boy presenting with congenital craniofacial Figure (10): A 4 –year- old- male presenting with a congenital midline nasal cleft. 3D volume rendered hypotelorism . Axial MR T1W images (A&B) showed evidence of semilobar Figure (9): A 10 –year- old boy presenting with complete CT images (A&B) showed facial asymmetry with hypoplastic left ramus and left side of body of mandible and deformity, cleft lip and palate and . Volume rendered 3D reconstructed image (A) reconstructed CT image (A) & axial CT scan (soft tissue and bone windows) showed midline cleft in the holoprosencephaly manifested by single horseshoe ventricle with rudimentary cleft lip and palate: 3D volume rendered CT reconstructed ipsilateral deviation of the jaw. Coronal CT scan (soft tissue window) (C) showed atrophic left masseter, showed a sizable midline frontal bony defect as well as a defect in the left lateral nasal wall, left ethmoid bone with associated hypertelorism. temporal and dorsal horns. The thalami are seen fused in the midline with non image (A) & coronal bone window CT scan (B) showed a temporalis, medial pterygoid muscles and parotid gland compared to the right side. Coronal CT scan (bone Case (2):Sagittal and lambdoid lamina papyracea, inferomedial aspect of the left orbit , left maxilla involving its alveolar margin visualization of the septum pellucidum, interhemispheric fissure nor the midline defect seen involving the alveolar margin of the window) (D) showed associated atresia of the left external auditory canal. Case (1): Scaphocephaly and anterior aspect of the hard palate. Sagittal T1 MR image (B) and T2 axial fat suppression (C) anterior falx cerebri. There is also evidence of pachygyric pattern of the synostosis premaxilla with dehiscence of the medial wall of the right showing evidence of agenesis of the corpus callosum with parallel bodies of lateral ventricles. brain.3D volume rendered reconstructed CT image (C) showed deficient maxillary antrum which shows partial opacification due to Associated lipoma of the anterior interhemispheric fissure is seen showing T1 hyperintense signal premaxilla with associated hypotelorism. retained secretions and mucosal thickening. with suppression of its signal in the fat suppression sequence confirming its fatty nature.

Case (13): Treacher Collins syndrome Case (14): Mandibular hypoplasia Case (15) : Mandibular hypoplasia Case (16): Microtia Case (17): Hemifacial hypertrophy

ABC A B Figure (1): (A) sagittal CT showing dolicocephalic (scaphocephalic) Figure (2): A 5 -year- old male presenting with configuration of the skull with elongated AP diameter. (B) volume rendered scaphocephaly . 3D volume rendered reconstructed 3D reconstructed CT image & (C) coronal reconstructed CT image showing CT images (A&B) showing bony synostosis of the bony synostosis of the sagittal suture with patent coronal and lambdoid sagittal and lambdoid sutures. The coronal sutures sutures. are patent.

A B C B D A C A ABCD Case (3): Trigonocephaly B A C Figure(13): A 3 -year- old female with Treacher Collins syndrome: (A,B,C) 3D volume rendered CT Figure (14): A 3 –month- old girl presenting with mandibular hypoplasia. MIP and volume B Figure (16): A 1 –month-old male presenting with microtia: Coronal soft tissue window (A) showing absent right images showing deficient zygomatic arches, hypoplastic maxillae and obtuse angle of the mandibles. rendered reconstructed CT images (A&B) showed hypoplasia of the right ramus of mandible with Figure (15): A two -year- old boy presenting with auricle. Axial high resolution bone window (B) showing bony atresia of the external auditory canal with hypoplastic Figure (17): A 5-year- old girl presenting with facial asymmetry since birth. (A&B) (D) Axial CT scan (bone window) showing that the lateral orbital walls are entirely formed by the absence of the mandible condyle and right temporomandibular joint. Axial CT scan (C) showed congenital hypoplasia of the mandible . Three middle ear cavity showing malaligned dysplastic ossicles which are seen attached to the lateral wall of the middle 3D volume rendered reconstructed CT images showed prominence of the soft greater wing of the sphenoid bones with absent zygoma bilaterally. atresia of the external auditory canal on the ipsilateral side. dimensional volume rendered reconstructed image cavity. Soft tissue opacity is seen wrapping around the dysplastic ossicles rasising the possibilty of congenital tissues of the left cheek. There is slight prominence seen in the left side of the (A) of the face shows hypoplastic mandible. Bilateral mandible. bony ankylosis of the temporomandibular joints is cholestoetoma . (C&D) 3D volume rendered reconstructed CT images showing absence of external auditory meatus on the right side and its presence on the left side. noted in the coronal bone window CT image (B). Axial T2W MR image (C) showed relative enlargement of the masseter and pterygoid muscles as well as of the parotid gland with prominent subcutaneous fat on the left side.

Conclusions:

A BC Multidetector CT is considered nowadays to be the modality of choice in evaluating patients presenting with congenital craniofacial Reference: Figure (3): A 3 -month- old male presenting with frontal bossing. (A&B) 3D volume rendered CT images and deformities. This allows for multiplanar reformatting and three-dimensional reconstruction which are crucial for accurate diagnosis and 1. Caruso, PA, Harris, GJ, Padwa, BL. CT imaging of craniofacial (C) axial bone window show bony synostosis of the metopic suture with typical trigonocephalic configuratrion malformations. Neuroimag Clin N Am 2003; 13: 541– 572 of the skull (pointed skull). eventual surgical management.