Cardiofacial syndrome short limbs
Overview
Cayler cardiofacial syndrome: Another name for Cayler syndrome (or close medical condition association). Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
Symptoms
The list of signs and symptoms mentioned in various sources for Cayler syndrome includes the 14 symptoms listed below: * Cardiac defect * Vertebral anomalies * Renal anomalies * Limb anomalies * Asymmetrical face * Underdeveloped muscle that controls lower lip * Absence of muscle that controls lower lip * Ventricular septal defect * Atrial septal defect * Tetralogy of Fallot * Small head * Small jaw bone * Small eyes * Mental retardation
Causes
* Bell palsy –A diagnosis of exclusion; 40% of cases * Acute otitis media –From erosion or dehiscence of facial canal * Chronic otitis media –Nerve compression from granulation tissue o Herpes zoster oticus –Often infects eighth nerve as well, with hearing loss and vertigo * Lyme disease –Usually several weeks after inoculation o Tumors –Temporal bone leukemia, rhabdomyosarcoma of head and neck * Melkersson-Rosenthal syndrome –Relapsing alternating facial paralysis –Recurrent facial edema –Fissured tongue o Temporal bone fracture –Although most cases involve longitudinal fractures, transverse may also result in hearing loss and vertigo * Facial wounds –Early repair if clean wound –Tag nerve for delayed repair if dirty wound o Iatrogenic –After otologic or parotid surgery * Congenital Traumatic (associated with prolonged and difficult labor) * Inherited disorders –Myotonic dystrophy: Progressive muscle weakness, facial paresis at birth –Albers-Schönberg disease: Osteopetrosis increases bone density, compresses nerve * Developmental abnormalities –Mobius syndrome: Facial paralysis with 6th cranial nerve palsy –Association with coloboma, heart defect, choanal atresia, genital hypoplasia, ear anomalies (CHARGE) –Goldenhar syndrome, also known as oculoauriculovertebral (OAV) syndrome: First and second branchial arch abnormalities –Asymmetric crying facies: Also called congenital unilateral lower lip palsy (CULLP)
Diagnosis
Immediate referral to a neurologist is indicated. One should do a complete examination of the ear, nose, and throat to determine if there is any rupture of the drum, discharge, evidence of otitis media, etc. Then x-rays of the mastoids and petrous bones should be done along with tomography. A CT scan of the brain with emphasis on the internal auditory foramina should be done if acoustic neuroma is suspected. Culture of the discharge from the ears and blood culture should be done if there are associated signs of an infectious process. Testing for Lyme disease may be indicated. Spinal fluid analysis should be done to look for Guillain-Barré syndrome. If myasthenia gravis is suspected, a Tensilon test may be done. Spinal fluid culture should be done in cases of brain abscess. Carotid scans and a workup for an embolic source should be done in cases of cerebral vascular accident. Of course, when there is a brain tumor or abscess or a cerebral vascular accident is suspected, CT scans of the brain should be done. If these are not helpful or are inconclusive, MRI of the brain can be done. Glucose tolerance testing should be done to rule out diabetic neuropathy. If lead poisoning is suspected, a blood level for lead should be done.
Treatment
* Bell's palsy –IV acyclovir and corticosteroids may lead to better recovery and less neuronal degeneration –Tape eye and use eye shade to protect the eye during sleep –Massage of weakened muscles –Electrical stimulation of paralyzed muscles in cases with delayed recovery * In other cases, treat the inciting causes (e.g., control of blood pressure and hyperlipidemia in patients with CVA, antibiotics for patients with Lyme disease , antivirals in Ramsay Hunt's syndrome, steroids for sarcoidosis) * Consider neurologic referral * Treat underlying cause, if identified –E.g., tympanomastoidectomy for cholesteatoma, resection or chemoradiation for malignancy * Psychological counseling when studies indicate expected poor prognosis * Eye care –Prevent exposure and drying of eye: Artificial tears, lubricating ointment, and moisture chamber at night –Ophthalmologic exam to rule out exposure keratitis –Surgical correction: Tarsorrhaphy, upper lid gold weight or spring placement * Pharmacologic –Steroids: Recommended, but exact benefit unclear –Acyclovir: Suspected viral etiology of Bell palsy * Surgery –Facial nerve decompression –Facial reanimation procedures (nerve and/or muscle grafting and/or transpositions)