Short Rib - Polydactyly Syndrome Associated With Oro-Facial-Digital Syndrome

Author: Deepti Shastri, R. Thamil Selvi

Category: Anatomy

Abstract:

Introduction: Short Rib - Polydactyly Syndrome (SRPS)is a group of malformations inherited as autosomal recessive condition. It is well recognized but confusion exists over the characteristics and nomenclature as different phenotypic findings are recorded due to variable gene expression. It may be associated with oro-facial-digital syndrome as they are mild and severe expressions of the same disorder.

Case Report: A 28-week old fetus was diagnosed to have Short Rib - Polydactyly Syndrome following an antenatal USG screening of a multigravida by the OBG department, VMKVMCH, Salem. The pregnancy was terminated fearing other major congenital anomalies usually associated with the syndrome.

Aim: To confirm the diagnosis/ arrive at a more precise diagnosis by radiological & morphological(gross & histological) study.

Objectives: A. To identify skeletal abnormalities in the X-ray. B. To measure various morphological parameters of the fetus. C. To interpret histopathological slides.

Materials and Method: The following were taken for the study -28-week dead fetus, USG Images, X-Rays, measuring tape & Vernier's calipers, histopathological slides.

Result:USG images indicated polydactyly & syndactyly and short ribs.Gross inspection of the fetus showed a number of anomalies, notably short limbs, polysyndactyly, cleft lip and hairy nevus. X-ray showed tibia shorter than fibula.All the morphological parameters were lesser than normal values.Histopathology indicated mononuclear infiltration of cerebellum, alveolar hemorrhages in lungs& inflammatory changes in the liver.

Conclusion:Following the study the diagnosis arrived at is Short Rib - Polydactyly Syndrome associated with Oro-Facial-Digital Syndrome.

Keywords: Polydactyly Syndrome, congenital anomalies