ba0002p191 | (1) | ICCBH2013
Sabrina Buonuomo Paola
, Macchiaiolo Marina
, Cambiaso Paola
, Capolino Rossella
, Digilio Maria Cristina
, Andrea Bartuli
Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...