The neonatologist is often the first point of contact for a child born with a craniofacial malformation. Abnormalities of the face and head can be distressing to a new parent, who is immediately wondering, “Is my child going to look, feel, and develop normally?” Having a basic understanding of the relationship between craniofacial abnormalities and feeding, breathing, hearing, vision, speech, and overall development will help the neonatologist begin to counsel a family. Airway compromise is well described in multiple craniofacial syndromes, and early identification can be lifesaving. Prompt recognition of a constellation of anomalies pointing toward a syndrome or diagnosis will result in better-targeted evaluations and therapies for that patient. This chapter presents potential ICU issues that may be encountered with craniofacial malformations and syndromes and highlights the most relevant craniofacial conditions that a neonatologist will encounter. We describe here the diagnosis, etiology, phenotype, and potential ICU issues as well as basic management and screening recommendations to help guide neonatal providers in caring for an infant with craniofacial malformations, including Robin sequence, Orofacial clefts, 22q11.2 deletion syndrome, Craniosynostosis, Craniofacial microsomia, Moebius syndrome, Treacher Collins syndrome, CHARGE syndrome, Beckwith-Wiedemann syndrome, Frontonasal Dysplasia, Encephalocele, and Congenital nasal pyriform aperture stenosis.

Isolated frontosphenoidal craniosynostosis (IFSC) is a rare congenital defect defined as premature fusion of the frontosphenoidal suture in the absence of other suture fusion. Until now, IFSC was regarded as a phenomenon with an unclear genetic etiology. We have identified three cases with IFSC with underlying syndromic diagnoses that were attributable to pathogenic mutations involving FGFR3 and MN1, as well as 22q11.2 deletion syndrome. These findings suggest a genetic predisposition to IFSC may exist, thereby justifying the recommendation for genetic evaluation and testing in this population. Furthermore, due to improved imaging resolution, cases of IFSC are now readily identified. With the identification of IFSC with underlying genetic diagnoses, in combination with significant improvements in imaging resolution, we recommend genetic evaluation in children with IFSC.

Craniosynostosis, the premature fusion of the infant cranial skulls, can be recognized by characteristic head shape differences that worsen with head growth. Craniosynostosis can be syndromic or nonsyndromic and can involve one suture or multiple sutures. Timely cranial vault surgery is recommended to expand and reshape the skull, with a goal of preventing increased intracranial pressure and providing sufficient space for brain growth. Several gene variants and environmental exposures are known to increase the risk of single suture craniosynostosis (SSC), including in utero constraint, exposure to specific toxins and medications, and medical conditions such as thyroid dysregulation and metabolic bone disorders.

Objectives To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the accuracy and reliability of 4D-CT and flexible fiber-optic laryngoscopy (FFL). Study Design Prospective survey of retrospective clinical data. Setting Single, tertiary care pediatric hospital. Methods At initial and 30-day time points, a multidisciplinary group of 11 clinicians who treat RS rated UAO severity in 32 sets of 4D-CT visualizations and FFL videos (dynamic modalities) and static CT images. Raters assessed UAO at the velopharynx and oropharynx (1 = none to 5 = complete) and noted confidence levels of each rating. Intraclass correlation and Krippendorff alpha were used to assess intra- and interrater reliability, respectively. Accuracy was assessed by comparing clinician ratings with quantitative percentage constriction (QPC) ratings, calculated based on 4D-CT airway cross-sectional area. Results were compared using Wilcoxon rank-sum and signed-rank tests. Results There was similar intrarater agreement (moderate to substantial) with 4D-CT and FFL, and both demonstrated fair interrater agreement. Both modalities underestimated UAO severity, although 4D-CT ratings were significantly more accurate, as determined by QPC similarity, than FFL (-1.06 and -1.46 vs QPC ratings, P = .004). Overall confidence levels were similar for 4D-CT and FFL, but other specialists were significantly less confident in FFL ratings than were otolaryngologists (2.25 and 3.92, P < .0001). Conclusion Although 4D-CT may be more accurate in assessing the degree of UAO in patients with RS, 4D-CT and FFL assessments demonstrate similar reliability. Additionally, 4D-CT may be interpreted with greater confidence by nonotolaryngologists who care for these patients.