Figure 1: Phenotypic Features (A) With permission, photograph of patient demonstrating Marfanoid habitus. (B) Fluoroscopy image of the femoral artery demonstrating a “beaded” appearance. [sciforschenonline.org]

Juberg RC, Stallard R, Straughen WJ, Avotri KJ, Washington JW (1981): A newborn monozygotic twin with abnormal facial appear- ance and respiratory insufficiency. Am J Med Genet 10:193-200. 670-675. [docslide.com.br]

At this visit, there was progressive shortness of breath, moderate aortic regurgitation and progressive dilatation of aortic root dimensions (3cm at 8 years, 4.6 cm by 20 years and 5.6 cm at 35 years on serial transthoracic echocardiography confirmed [sciforschenonline.org]

At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. [e-sciencecentral.org]

Autopsy revealed multiple anomalies including low-set posteriorly rotated ears, cleft of the soft palate, ocular hypertelorism, small upturned nose, agenesis of the gallbladder, sacral hemivertebrae, and abnormal flexion of the thumbs. [osti.gov]