A lethal form of neonatal chondrodystrophy which is characterised by polydactyly and severe short limb dwarfism. Symptoms are hydropic appearance with a narrow thorax, very short flipperlike limbs, and postaxial polydactyly. Associated abnormalities include brachydactyly, prominent abdomen, multiple cardiovascular defects (mostly transposition of the great vessel), hypoplastic lungs, anal atresia, and genital abnormalities. Inheritance is autosomal recessive. The two patients reported by Saldino and Noonan in 1972 were siblings.
We thank Andre Trombeta for information submitted.
- R. M. Saldino, C. D. Noonan:
Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.
American Journal of Roentgenology, Leesburg, Virginia, 1972. 114: 257.
- B. L. Marec, E. Passarge, P. Dellenbach, J. Kerisit, J. Signargout, B. Ferrand, J. Senecal:
Les formes neonatales lethales de la dysplasie chondro-ectodermique.
Annales de radiologie, Paris, 1973, 16: 19-26.
- Robert Brian Lowry, N. Wignall:
Saldino-Noonan short rib-polydactyly dwarfism syndrome.
Pediatrics, 1975, 56: 121-122.
- Jürgen W. Spranger, B. Grimm, M. Weller, G. Weibenbacher, J. Herrmann, E. F. Gilbert, R. Krepler:
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.
Zeitschrift für Kinderheilkunde, Berlin , 1974, 116: 73-94, 1974.
- M. M. Richardson, A. L. Beaudet, M. L. Wagner, S. Malini, H. S. Rosenberg, J. A. Lucci, Jr. :
Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.
The Journal of Pediatrics, St. Louis, 1977, 91: 467-471.