Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation


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.

This is a preview of subscription content, access via your institution.


  1. 1.

    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

    Google Scholar 

  2. 2.

    Kaibara N, Eguchi M, Shibata K, Takagishi K (1980) Short rib-polydactyly syndrome type I, Saldino-Noonan. Eur J Pediatr 133: 63–65

    Google Scholar 

  3. 3.

    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

    Google Scholar 

  4. 4.

    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

    Google Scholar 

  5. 5.

    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

    Google Scholar 

  6. 6.

    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

    Google Scholar 

  7. 7.

    Spranger J, Langer LO, Wiedemann H-R (1974) Short rib-polydactyly syndrome, Saldino-Noonan type. In: Bone dysplasias. Fischer, Stuttgart, pp 53–54

    Google Scholar 

  8. 8.

    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

    Google Scholar 

Download references

Author information



Corresponding author

Correspondence to W. Grote.

Rights and permissions

Reprints 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).

Download citation

Key words

  • Short-rib-polydactylia syndrome
  • Saldino-Noonan syndrome
  • Prenatal diagnosis
  • Ultrasound examinations