Echocardiography showed a mitral valve velocity of 0.7 m/s (2 mmHg), grade I mitral regurgitation and moderate tricuspid valve regurgitation. His mitral valve annulus diameter was 16 mm. [academic.oup.com]

Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. Indian J Anaesth [serial online] 2011 [cited 2019 May 13];55:428-30. [ijaweb.org]

Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the [ncbi.nlm.nih.gov]

Other features that may occur include seizures, psychiatric problems, and extrapyramidal signs including dystonia, hypopigmentation, pancreatitis, malar flush, and livedo reticularis. [ncbi.nlm.nih.gov]

He also had severe myopia, microphakia and the same characteristic features as his father corresponding to Weill–Marchesani syndrome (joint stiffness). [academic.oup.com]

dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane [en.wikipedia.org]

dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan syndrome Noonan's syndrome Oculo-cerebro-cutaneous syndrome Oculodentodigital syndrome Oculodento-osseous dysplasia [icd9data.com]

She had joint stiffness at the elbows with reduced motility (supination 23 ) and was unable to make a fist with both hands. [ncbi.nlm.nih.gov]

Sulfite oxidase deficiency is a rare disorder of lens luxation with severe neurologic symptoms: untreatable seizures, opisthotonus, attenuated growth of the brain, and intellectual disability. [ncbi.nlm.nih.gov]

The cardinal biochemical features of homocystinuria are markedly increased concentrations of plasma homocystine, total homocysteine, and methionine; increased concentration of urine homocystine; and reduced cystathionineβ-synthase (CBS) enzyme activity [ncbi.nlm.nih.gov]