MURCS is an acronym for müllerian 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 ...