Synonym

Spondylocostal Dysostosis with Anal atresia and Urogenital Anomalies

Introduction

Casamassima-Morton-Nance syndrome belongs to the group of spondylocostal dysostosis. This syndrome was first described by Casamassima in 1981 in a Mennonite sibship. It was a case with anal atresia, genitourinary abnormalities and spondylocostal dysostosis. There were 5 other cases of this condition described in the literature until this date.
All the reported case had anal atresia and urinary abnormalities such as hydronephrosis, renal agenesis, uretral atresia. Four cases had genital anomalies and skeletal anomalies such as scoliosis, hemivertebrae and rib anomalies.

Case report

This is a case of healthy G3 P2 with non-contributive family or personal history. She was morbidely obese and had previous cesarean section so the anterior wall of the uterus was scarred and the ultrasound examination was technically very difficult.

Her first ultrasound scan performed at 14 weeks of gestation showed anhydramnios, very short fetus with normal head and thorax but thoracic spine was not seen. 4-chamber view of the heart looked normal. The abdomen lower and extremities were very difficult to visualize. Our differential diagnosis included Limb-body wall complex with circumvallate placenta.

At 15 weeks, parents decided for the pregnancy termination based on the ultrasound findings.
Pathology examination of the fetus showed the following findings:

The final diagnosis of the pathologist was Casamassima-Morton-Nance syndrome.

Images 1,2: Image 1 shows a sagittal view of the fetus, note very short spine. Image 2 shows a profile of the fetus,

References:

1. M. Aguinaga1 M,Yllescas E, Canseco M, Machuca A, Acevedo S, Mayen Molina DG: Prenatal clinical characteristics of Casamassima-Morton-Nance syndrome.Prenat Diagn 2009; 29: 175–176.