Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. These patients have craniofacial and skeletal features that overlap with the Marfan syndrome (MFS), and more importantly, have significant vascular fragility as is seen in MFS and Ehlers-Danlos syndrome Type IV (EDS-IV). The skeletal phenotype with respect to low bone mineral density and skeletal fragility is not clear.

A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.

Although supernumerary marker chromosomes derived from chromosome 15 (SMC(15)) are the most common marker chromosome in humans, ring SMC(15)s are rare. Here we report on a 16-month-old patient who has a ring SMC(15) with two copies of the segment 15p11.1-q14 region.

Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis.

Study Objectives: To reassess the association between neurofibromatosis and pulmonary fibrosis.

Design: Retrospective single-center study with analysis of patients' chest radiographs, CT scans, and medical records.

Setting: Tertiary care, referral medical center.

Nonmosaic smallest duplication of 12q24.31-qter: the first reported case.

Duplication of the terminal region of the long arm of chromosome 12 is not common. In 13 previous cases, duplication of this region was generally associated with deletions of the derivative chromosomes, larger sized duplications or mosaicism. We have studied a young man with a nonmosaic duplication of 12q24.