ESPE Abstracts

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incidentally because of abdominal pain or other complaints. VACTERL association refers also to a group of congenital defects that tend to co-occur. VACTERL stands for (V)ertebral defects, (A)nal atresia, (C)ardiac defects, (T)racheo-(E)sophageal fistula, (R)enal anomalies, and (L)imb abnormalities. Patients diagnosed withVACTERL association typically have at least three of these characteristic features. Some of the features of VACTERL association may not be identified until late in childhood or adulthood, making diagnosis of this condition difficult. The cause of MURCS and VACTERL association is unknown. There is no link to knownteratogens and there is no known genetic cause discovered so far.

Patient and Methods: A 12 year old girl was referred for genetic counseling. She was born with tracheoesophageal fistula. Karyotyping was performed prenatally and was compatible with normal XX female. She had been under an endocrinologist's surveillance since the age of six years, because of short stature. Her physical examination demonstrated fusion of the labia minora which led to further imaging studies, including a pelvic ultra sound, pelvic MRI and a cervical X-ray.

Results: The patient underwent pelvic ultra sound which showed abnormal genitalia. MRI of the pelvis revealed a horseshoe kidney and vaginal atresia. A cervical x-ray was completed and demonstrated C6-7 blocked vertebrae.

Conclusion: MURCS and VACTERL associations have several defects in common, and yet they are considered distinct clinical entities. This patient follows the diagnostic features of both MURCS and VACTERL association. A co-occurrence of the two has been reported in only three case reports in the past and may imply to a common pathway leading to this unique phenotype. In cases of short stature, additional findings such as tracheoesophageal fistula or urogenital anomalies, should alert the clinician and result in further investigation. Future studies will possibly reveal the embryonal and genetic mechanism leading to these congenital defects, and will enable accurate genetic counseling regarding siblings and offspring.