Dysostosis spondylocostal: a clinical study of 14 patients. C.Y. Utagawa1, C.A. Kim1, S.M.M. Sugayama1, D. Bertola1, L.A.N. Oliveira2, C.H. Gonzalez1. 1) Dept. of Pediatrics, Instituto da Crianca, University of Sao Paulo, Sao Paulo, Brazil; 2) Dept. of Radiology, Instituto da Crianca, University of Sao Paulo, Sao Paulo, Brazil.
Spondylocostal dysostosis is a skeletal disorder characterized by short trunk and short stature due to multiple vertebral and rib segmentation defects. There is an evident genetic heterogeneity with two patterns of inheritance: autosomal recessive and autosomal dominant. We report on clinical data from 14 patients (7 females and 7 males) belonging to 13 families. The age of the diagnosis ranged between 11 days and 6 years. Only 4/14 (28%) cases were diagnosed during the neonatal period. Half of the patients presented short stature at birth, while scoliosis and ribcage deformity were present in all cases. Recurrent pneumonias occurred in 6/14 (43%) and respiratory failure in 4/14 (28%). This latter event was the cause of death in one of these children during the neonatal period. Hernias (64%), neural tube defects (36%), congenital heart disease (14%) and urinary tract anomalies (14%) were the most frequent associated anomalies. Cerebral poligiria and delayed psychomotor development were found in only one child. The main skeletal malformations were hemivertebrae, fusion and hypoplasia of the vertebral bodies, agenesis, hypoplasia and fusion of the ribs. Dorsal column was affected in 92% of the patients, followed by lumbar (78%) and cervical region (43%). Progression of the scoliosis was present in 23% of the cases. Patients with extensive involvement of the column showed a less severe degree of scoliosis compared to the ones with mild vertebral anomalies. The children's parents were evaluated and none of them presented vertebral anomalies. Consanguinity was observed in two occasions and there was a recurrence (two sibs affected) in another one, suggesting a pattern of autosomal recessive inheritance in these families. Therefore, the majority of the cases (72%) were sporadic, in concordance to the literature.