Abstract
A case is described in which the family history and the sonographic findings during the 17th gestational week led to the suspicion of a short-rib-polydactylia syndrome of the Saldino-Noonan type and an abortion was induced. The ultrasound image disclosed cystic structures in the topographic area of the kidney, marked ascites and oligohydramnios and indicated a severe fetal developmental disturbance.
Due to the oligohydramnios the extremities could not be interpreted sonographically. The pathological-anatomical findings confirmed the suspected short-rib-polydactylia syndrome of the Saldino-Noonan type. Typical skeletal changes, dysgenetic cystic kidneys and pancreatic fibrosis were especially indicative of the syndrome. The complete agenesia of the islets of Langerhans, present in our observation, has, as far as we know, previously not been reported in the case of short-rib-polydactylia syndromes.
Similar content being viewed by others
References
Cherstvoy ED, Lurie IW, Shved IA, Lazjuk GI, Ostrowskaya TI, Usoev SS (1980) Difficulties in classification of the short ribpolydactyly syndromes. Eur J Pediatr 133: 57–61
Kaibara N, Eguchi M, Shibata K, Takagishi K (1980) Short rib-polydactyly syndrome type I, Saldino-Noonan. Eur J Pediatr 133: 63–65
Krepler R, Weißenbacher G, Leodolter S, Müller-Tyl E (1976) Nicht lebensfähiger, mikromeler Zwergwuchs: Thoraxdystrophie-Polydaktylie-Syndrom Typ Saldino-Noonan. Monatsschr Kinderheilk 124: 167–173
Richardson MM, Beaudet AL, Wagner ML, Malini S, Rosenberg HS, Lucci JA (1977) Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. J Pediatr 91:467–471
Saldino RM, Noonan CD (1972) Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Amer J Roentgenol 114: 257–263
Spranger J, Grimm B, Weller M, Weißenbacher G, Herrmann J, Gilbert E, Krepler R (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilk 116:73–94
Spranger J, Langer LO, Wiedemann H-R (1974) Short rib-polydactyly syndrome, Saldino-Noonan type. In: Bone dysplasias. Fischer, Stuttgart, pp 53–54
Wiedemann, H-R, Grosse F-R, Dibbern H (1982) Kurzrippen-Polydaktylie-Syndrom vom Typ Saldino-Noonan. In: Das charakteristische Syndrom, 2. Aufl. Schattauer, Stuttgart, p 152–153
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Grote, W., Weisner, D., Jänig, U. et al. Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation. Eur J Pediatr 140, 63–69 (1983). https://doi.org/10.1007/BF00661909
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00661909