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At a glance

MURCS is an acronym that stands for MÜllerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia. It is a very rare disorder that affects only females. Clinically, it is characterized by the 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. Most of affected patients have congenital heart defects. The urogenital abnormalities include Müllerian duct agenesis and unilateral renal hypoplasia. In some cases, neural tube defects, such as occipital encephalocele, can be present. Some affected females exhibit craniofacial malformations.

Synonyms

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.

History

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 1979.

Incidence

It is estimated as 1:4,000 to 5,000 female newborns and 1:20,000 female visits at a gynecological hospital.

Genetic inheritance

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

Pathophysiology

The malformations are compatible with a defect in the arrangement of the paraxial mesoderm, also known as the presomitic or somitic mesoderm, is the area of the mesoderm in the neurulating embryo that gives 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.

Clinical aspects

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.

Precautions before anesthesia

It is recommended to obtain baseline renal function tests. A thorough examination of the cardiac system must include an ECG and echocardiogram, if deemed necessary. A complete blood count, particularly for the search of thrombocytopenia is important. It is essential to review ...

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