Skip to Main Content

++

MURCS is an acronym for llerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia. Very rare disorder that affects only females. Characterized by absence of the uterus, cervix, and upper part of the vagina; kidney agenesia or ectopia; and malformations of the radial ray (phocomelia), ribs, and cervicothoracic spine. Urogenital abnormalities include müllerian duct agenesis. In some cases, neural tube defects, such as occipital encephalocele, can be present. Some affected females exhibit craniofacial malformations.

++

DK-Phocomelia Syndrome; von Voss-Cherstvoy Syndrome; Müllerian Duct-Renal-Cervicothoracic-Upper Limb Defect Syndrome; Müllerian Duct and Renal Agenesis with Upper Limb and Rib Anomalies; Müllerian-Renal-Cervicothoracic Somite Abnormalities.

++

The name DK-Phocomelia originates from the initials of the last names of the two first-described patients. E. Cherstvoy was the first to report this medical condition in 1980.

++

It is estimated as 1:4000-5000 female newborns and 1:20,000 female visits at a gynecological hospital.

++

Although most of the cases seem to occur sporadically, autosomal recessive transmission has been reported.

++

The malformations are compatible with a defect in the arrangement of the paraxial mesoderm giving rise to the occipital, cervical, and thoracic somites and the adjoining intermediate mesoderm. These structures contribute to the genesis of occipital bone, cervical spine, upper limbs, and urogenital system.

++

The major findings are the presence of kidney (unilateral or bilateral agenesis, horseshoe kidney) and genital anomalies (müllerian duct agenesis, absence of the cranial two thirds of the vagina, hypoplasia of the uterus). However, affected females usually have normal sexual development because of (most often) normal ovarian function. Other defects may include occipital encephalocele, cerebral cysts, cerebellar hypoplasia, seizures, congenital heart disease (absent papillary muscle of tricuspid leaflet, abnormal coronaries), abnormal lobation of the lungs, and diaphragmatic agenesis. Orthopedic features include phocomelia, radial ray, finger, and vertebral anomalies (approximately 80% have cervicothoracic anomalies, particularly from C5 to T1) and may include Sprengel deformity, cervical fusion vertebrae, single or multiple hemivertebra(e), and scoliosis. Short stature is common for these patients. Furthermore, hemifacial microsomia, small mandible, cleft palate, short, webbed neck, unilateral adrenal and ovarial agenesis, and thrombocytopenia have all been reported.

++

Obtain baseline renal function tests. Thorough examination of the cardiac system including ECG and echocardiogram, if deemed necessary. Complete blood count (thrombocytopenia) and chest and cervical radiographs. Carefully assess the airway (micrognathia) and cervical range of motion.

++

Airway management may be difficult because of micrognathia (often mild) and vertebral anomalies with a short neck. Neuraxial anesthesia is not recommended because of thrombocytopenia, vertebral anomalies, and encephalocele/cerebral cysts. Anesthetic management is dictated by the cardiac disease. Anomalies of the arm may render vascular access and placement of blood pressure cuff and tourniquets difficult.

++

In the presence of renal anomalies with decreased renal function, avoid drugs eliminated mainly by the kidney or adjust the dosage accordingly (e.g., neuromuscular relaxants and antibiotics). In the presence of a seizure disorder, potentially ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.