langes Philtrum

Further

delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. Clinical and radiological features of the proband and her daughter. (A) Clinical phenotype of the proband including microretrognathia, and elongated philtrum (a, b), mild generalized skin hyperextensibility (c), joint hypermobility (d, e). (B) MRI in the proposita showed dural ectasia of the lumbar tract (a), MRA disclosed tortuosity and ectasia of carotid, vertebral, and cerebral arteries (b, c) and marked tortuosity of both segmental pulmonary arteries (d). (C) Clinical presentation of the 34 years-old proband’s daughter: hypotelorism, elongated philtrum and malar hypoplasia (a, b), mild skin hyperextensibility over the neck (c), atrophic post-surgical scar and ecchymosis (d), arachnodactyly with positive wrist and thumb signs (e, f).