title: Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.
abstract: 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 II alone, recognition of these facial features may assist in the differentiation of LDS II from closely related conditions, and facilitate diagnosis and appropriate investigations and management.
authors.affiliation: Department of Clinical Genetics Marfan Research Group, The Children's Hospital at Westmead Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia. lesleya@chw.edu.au
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Adès
mesh_terms: D000328:Adult; D001014:Aortic Aneurysm / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008445:Maxillofacial Development; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D013577:Syndrome
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human