Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

• DOI: 10.1097/mcd.0b013e3282ef97ee
• Publication Date: 2009-03-05T02:58:53Z
• Authors: Vera Uliana; Nicola Giordano; Rossella Caselli; Filomena Tiziana ...; Francesca Ariani; Claudio Marcocci; Elena Gianetti; Giuseppe Martini; Panagiotis Papako...; Fabio Rollo; Ilaria Meloni; Francesca Mari; Manuela Priolo; Alessandra Renieri; Ranuccio Nuti
• Keywords: Renal agenesis; Aplasia; Agenesis; Clinodactyly

The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian hypoplasia, dysplasia. We report on a 22-year-old woman with bicornuate uterus, right agenesis, C2–C3 vertebral fusion (MURCS association) 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries dermoid cyst in ovary mild osteoporosis were also diagnosed. Accurate revision radiographs enabled us to identify thoracolumbar lumbosacral vertebral-differentiation defects. Audiometry echocardiogram normal. Bone densitometry showed osteoporosis. As per our evaluation, patient had short stature, obesity (BMI 30.7) facial features suggestive 22q11 deletion syndrome. Multiplex ligation-dependent probe amplification analysis de-novo confirmed by array-comparative genomic hybridization analysis. discuss whether this is casual it an additional syndrome owing well known phenotype extensive variability