Abstract

SIGLER VILLANUEVA, Aldo A; LANDRIAN-IGLESIAS, Beatriz; LIMA-RODRIGUEZ, Ulises  and  FORSIUS, Henrik R. Clinical report on multiple dysmorphias with familial aggregation. Rev Cubana Invest Bioméd [online]. 2013, vol.32, n.3, pp. 357-365. ISSN 0864-0300.

Presentation of the clinical characteristics of a 68-year-old woman and her two daughters, aged 36 and 33, who had a number of abnormalities of probable hereditary origin. Interconsultations were conducted with several specialties: internal medicine, genetics, cardiology, radiology, angiology, psychiatry, dermatology, otorhinolaryngology, maxillofacial, ophthalmology and neurology. The findings common to the three patients were retinal arterial tortuosity, chronic open angle glaucoma, brachydactyly and other dysmorphic disorders of fingers and toes, hallux valgus, telangiectasia in cheeks and upper thorax, protruding ears, frontal hyperostosis, pectus excavatum and mitral insufficiency. Both daughters had neovascular glaucoma in one of their eyes. This complex clinical condition, with disorders involving limbs, face, the cardiovascular system, eyes and skin, and a potential autosomal dominant inheritance in view of its presence in two successive generations, does not correspond to any of the syndromes considered in this report.

Keywords : brachydactyly; retinal arterial tortuosity; glaucoma; autosomal dominant inheritance.

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