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The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father. Copy number variations in this chromosomal region are thought to be pathogenic and associated with various phenotypes including developmental delay, growth retardation, seizures, renal disease, and diabetes mellitus. We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 duplication.

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DESCRIPTIONA 16-year-old girl presented with severe cyclical lower abdominal pain during menstruation, associated with vomiting, since 1year. Her menstrual cycles were regular: 3/30. Transabdominal ultrasound showed echogenic fluid collection in the endometrial cavity of the uterus, suggesting haematometra. A septated left adnexal cyst with echogenic fluid was seen, suggestive of hematosalpinx or endometriotic cyst.Suspecting a müllerian duct anomaly (MDA), a plain MRI study of the pelvis was performed with the following sequences: T2-weighted (T2W) images in coronal, axial and sagittal planes, T1W axial and T2 FS coronal images.Coronal T2W images showed thick hypointense septum in the uterus, which was asymmetrically dividing the endometrial cavity into a smaller right cavity and a larger left cavity. The lower portion of the septum was transversely oriented (figure 1) and was obstructing the left endometrial cavity leading to its distension and haematometra ( figure 2).Dilation of the left fallopian tube was also seen, which was filled with haemorrhagic fluid, Figure 1 Coronal T2-weighted MRI showing a well-defined hypointense septum dividing the endometrial cavity. The lower portion of the septum was transversely oriented and obstructing the left endometrial cavity, which was distended with haemorrhagic fluid. The right endometrial cavity was communicating with the cervical canal. Uterine fundus contour was normal.

A 51-year-old male presented to our hospital's outpatient department with complaints of swelling in left thigh since six year. The swelling was insidious, gradually progressive in size, not associated with pain, fever or discharge. There was no history of weight loss or loss of appetite. There was no history of any antecedent trauma or any direct impact on the area. Medical history revealed no bleeding diathesis or anticoagulant therapy.Physical examination revealed a well defined fluctuant swelling in the lateral aspect of left thigh, measuring 17x10x5 cm in size. The swelling was globular in shape with smooth surface with no tenderness and no local rise in temperature. The lesion was cystic in consistency and compressible with smooth edges and the overlying skin was smooth and could be pinched. The lesion could be moved over the underlying muscles. Distal neurovascular status was normal. Ultrasound revealed a large subcutaneous cystic lesion showing mobile internal echoes, extending from hip to the knee region. MRI revealed a well defined unilocular cystic lesion measuring 20x10x6 cm which was hyperintense on both T1-weighted and T2-weighted sequences, seen along the left proximal fascia lata, in close proximity to underlying vastus lateralis and gluteus maximus muscles with maintained intervening fat planes. Fluidfluid level with dependent hypointensity was seen within the lesion. The cyst showed a thin smooth capsule which was hypointense on all sequences, and multiple small hypointense mural nodules were seen projecting into the lumen [Table /Fig-1a Morel-lavallee lesion (MLL) represents post traumatic subcutaneous cyst generally overlying bony prominences like greater trochanter, lower back, knee and scapula. A 51-year-old man presented with a swelling in left thigh since six years which was insidious in onset, gradually progressive in size and not associated with pain, fever or discharge. There was no history of trauma or any associated constitutional symptoms. Since there was no history of trauma recalled by the patient the clinical dilemma was between soft tissue sarcoma and cold abscess. We report a case of slow growing painless mass lesion of thigh, diagnosed on Magnetic Resonance Imaging (MRI) as morel lavallee lesion and describe its salient imaging features with treatment options.[

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Angiomyoma of the extremity is a notoriously elusive preoperative diagnosis, as the list of differentials for its described classic clinical features of a painful mobile subcutaneous mass is quite vast. Imaging features described for angiomyomas are far from being specific. On ultrasound, angiomyomas are mostly described as a well-defined solid mass lesion showing robust internal vascularity. On T2-weighted MRI they have been described as homogenous to heterogeneously hyperintense relative to skeletal muscle. We report a pathologically proven angiomyoma around the knee joint in a middle aged man, describe its clinical and imaging features, and outlay an approach in diagnosing this rare entity as a differential for painful subcutaneous mass lesions.