We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal bones. In addition, she presented with hypoplasia of the uterus and ovarian dysfunction resulting in hypergonadotrophic hypogonadism. Mutation analysis of BMPR1B revealed a homozygous 8 bp deletion (del359–366). This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. The patient’s skeletal phenotype shows an overlap with the clinical spectrum of the acromesomelic chondrodysplasias of the Grebe, Hunter-Thompson, and DuPan types caused by homozygous mutations in the gene coding for growth differentiation factor 5 (GDF5) which is a high-affinity ligand to BMPR1B. However, the phenotype described here differs from GDF5 associated chondrodysplasias because of the additional presence of genital anomalies and the distinct limb phenotype.

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This report evaluated the short and midterm results of the safety and effectiveness of the treatment technique with hybrid and non-hybrid Y-configured, dual stent-assisted coil embolization of wide-neck intracranial aneurysms, and reviewed the literature concerning this technique. Nine patients, eight with unruptured and one with ruptured aneurysms were included in the study. Of aneurysms embolized with a hybrid (with two different stents) and non-hybrid (with two identical stents) technique, three were located in the anterior communicating artery, three at the tip and one at the distal site of basilar artery, and two in the middle cerebral artery. All aneurysms included the orifices of bifurcation vessels. All aneurysms were stented and embolized during the same session. While Neuroform and Enterprise stents were used in the hybrid technique, two Enterprise stents were used in the non-hybrid technique. Dual Y-stent assisted coil embolization was performed successfully in eight of nine patients (88.9%), including five patients (55.6%) with hybrid and three patients (33.3%) with non-hybrid technique. No procedural complication, no mortality and no minor or major neurological complications were seen during the angiographic or clinical follow-up. When an attempt was made at passing the second stent through the first Enterprise stent, the stent protruded inside the aneurysm in one patient (11.1%). Hybrid or non-hybrid dual Y-stent-assisted coil embolization in the treatment of ruptured or unruptured wide-neck and complex intracranial aneurysms is a safe and effective method from the viewpoint of short and midterm results.