Table 2 Evaluation and examination recommended for patients with congenital facial weakness
From: A framework for the evaluation of patients with congenital facial weakness
For all patients with CFW: | ||
Dysmorphology exam by geneticist | Assess for dysmorphic features Obtain family history Assess for intrauterine exposures | If facial asymmetry/hemifacial microsomia ± microtia present, consider a diagnosis of oculo-auriculo-vertebral spectrum disorder and order renal sonogram and cervical x-ray If characteristic CHARGE ear present, consider a diagnosis of CHARGE syndrome If ear anomalies are present, consider HCFP3 If Pierre-Robin sequence, cleft palate, scoliosis, and/or contractures are present, consider Carey-Fineman-Ziter or fetal akinesia syndromes If personal or family history of malignant hyperthermia, consider Native American myopathy or RYR1 disease If a specific diagnosis is suspected that is caused by a single gene or few genes, especially in the case of positive family history, order sequencing with deletion/duplication analysis for the suspected genes or D4Z4 allele contraction testing in the case of facioscapulohumeral muscular dystrophy When a specific diagnosis caused by a single gene is not suspected, chromosome analysis and chromosomal microarray may be offered. Consider whole exome sequencing |
Neurology exam | Full cranial nerve examination including testing for anosmia and hearing Assess for presence of peripheral neuropathy and mirror movements Assess for muscle weakness and signs of myopathy or myotonia | Brainstem/cranial nerve/orbital MRI if considering diagnosis of Moebius syndrome or HCFP to assess for absence or hypoplasia of CN7 and other cranial nerves (1, 3, 6, 8–11). MRI may reveal abnormalities of the corpus callosum, pituitary gland, olfactory sulci and olfactory bulbs in individuals with TUBB3 E410K EMG, nerve conduction studies to narrow differential Consider EEG to rule out seizures Consider muscle biopsy if limb muscles are abnormal Consider sleep studies depending on history If weakness of shoulder girdle, consider diagnosis of facioscapulohumeral muscular dystrophy Isolated congenital lower lip palsy is suggestive of asymmetric crying facies Peripheral neuropathy may be seen with CFEOM3 |
Ophthalmology exam | Assess extraocular movements and for presence of ptosis Assess for aberrant movements such as globe retraction found in Duane syndrome (associated with ABDS/BSAS) | If abduction deficit or bilateral horizontal gaze palsy with full vertical motility, consider diagnosis of Moebius syndrome or ABDS/BSAS Ophthalmoplegia and ptosis may be seen with CFEOM3, CMS9, and multiminicore myopathy |
For some patients with CFW: | ||
ENT referral | Assess for possible hearing loss and temporal bone/ear anomalies | CT to assess for temporal bone abnormalities and/or hypoplastic semicircular canals in the case of CHARGE syndrome and ABDS/BSAS |
Cardiology referral | Assess for congenital heart defect (associated with BSAS/ABDS, oculo-auriculo-vertebral spectrum disorder, and Moebius syndrome) | Echocardiogram |
Endocrinology referral | Assess for hypogonadotropic hypogonadism/ Kallmann syndrome (associated with CFEOM3 and CHARGE) | Hormone testing Smell testing |
Developmental pediatrics referral | Assess for developmental delays | PT, OT, and ST as indicated |
Orthopedics/Physical Medicine and Rehabilitation referral | Assess for scoliosis, limb length discrepancy, and need for orthotics | X-rays |
Craniofacial Team/Dental referral | Assess for orofacial clefting, Pierre Robin sequence, palatal and tongue defects, dental anomalies | Craniofacial exam by a craniofacial surgeon Dental exam |