Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases

Loeys-Dietz syndrome (LDS) is a recently recognized arterial aneurysm syndrome because of heterozygous mutations in TGFBR1 or TGFBR2. Two subtypes have been delineated: LDS I, with features including craniosynostosis, hypertelorism and cleft palate and/or bifid uvula, and LDS II, wherein the face is reportedly normal. The most salient feature in LDS, whether type I or II, is of a generalized arteriopathy. The craniofacial features of LDS I are recognizable. No particular craniofacial phenotype has been reported in LDS II. We describe the evolution of facial features with age in seven LDS II patients harbouring a TGFBR1 or TGFBR2 mutation. Most patients had dolichocephaly, a tall broad forehead, frontal bossing, a high anterior hairline, hypoplastic supraorbital margins, a 'jowly' appearance (particularly in the first 3 years of life), translucent and redundant facial skin (often most pronounced in the periorbital region), prominent upper central incisors in late childhood/adulthood, and an open-mouthed myopathic face. The adult faces appeared prematurely aged. Although not exclusive to LDS 11 alone, recognition of these facial features may assist in the differentiation of LDS I I from closely related conditions, and facilitate diagnosis and appropriate investigations and management. Clin Dysmorphol 17:243-248 (C) 2008 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.