Dk phocomelia syndrome
Overview
Dk--phocomelia syndrome (medical condition ): An early congenital condition that is characterised by multiple congenital anomalies. Dk--phocomelia syndrome: Another name for Von voss Cherstvoy syndrome (or close medical condition association). Von voss Cherstvoy syndrome: An early congenital condition that is characterised by multiple congenital anomalies.
Symptoms
The list of signs and symptoms mentioned in various sources for Von voss Cherstvoy syndrome includes the 9 symptoms listed below: * Occipital encephalocele * Shortened limbs * Asymmetrical face * Epicanthal folds * Low set ears * Flattened nose * High arched palate * Hepatomegaly * Urogenital abnormalities
Causes
* Asymmetrical face * Epicanthal folds * Flattened nose * Hepatomegaly * High arched palate * Low set ears
Diagnosis
Audiometry and caloric testing or electronystagmography should be done in almost all cases in which the ear examination is normal. It is probably wise to consult an otolaryngologist at this point. Tympanography will be helpful in diagnosing subtle cases of serous otitis media. X-rays of the mastoids, petrous bones, and internal auditory canal should be done for chronic otitis media, cholesteatoma, and acoustic neuroma. If an acoustic neuroma is suspected, however, an MRI of the brain and auditory canals must be done. If basilar artery insufficiency is suspected, four-vessel cerebral angiography should be done. Magnetic resonance angiography is an excellent noninvasive alternative for diagnosing vertebral-basilar artery disease. If multiple sclerosis is suspected, MRI of the brain, BSEP and VEP studies, and a spinal tap for spinal fluid analysis may be done. Rather than perform these tests, the most cost-effective approach would be to refer the patient to a neurologist if other focal neurologic findings are evident.