Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome

The presence of some specific craniofacial anomalies in our patient, particularly telecanthus, broadened nasal bridge, lip pseudocleft, dysplastic and

94) semielliptical; anterior margin notched at middle; with long setae. Mandibles narrow with one apical and one subapical tooth; penicillus formed by short setae disposed in

Gonostylus as long as gonocoxite; stem narrow and slightly sigmoidally curved in lateral view, with a small translucent membranous flap borne ventromesally in basal half; head short

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and

A terapêutica hipouricemiante é eficaz na redução do valor sérico de ácido úrico e a suspensão da terapêutica devido a efeitos adversos não foi superior nos grupos

Differential diagnosis can be considered with: Apert syndrome (a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anoma- lies, and severe

We report two cases of Maffucci’s syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challeng- ing management of

Because mutations in ZEB2 are frequently associated with agenesis of the corpus callosum, microcephaly, epilepsy, and mental retardation, this new genetic syndrome may hold interest