Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p191 | (1) | ICCBH2013

Long-term follow-up in Stuve–Wiedemann syndrome: a case report

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...