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 2018-04-17  Case of the week # 470  © Fabrice Cuillier

Answer to the case of the week # 470
May 10, 2018 - May 24, 2018

Fabrice Cuillier ,MD.1, Balu M.,MD.2, Doray B.,MD.3, Alessandri J.L.,MD.4 

1 Service de Gynécologie, Hôpital Félix Guyon, 97400 Saint-Denis, La Réunion. France. 

2 Service de Radiologie, Hôpital , 97400 Saint-Denis, La Réunion. France. 

3  Service de Génétique, Hôpital Félix Guyon, 97400 Saint-Denis, La Réunion. France. 

4 Service de Néonatologie, Hôpital Félix Guyon, 97400 Saint-Denis La Réunion. France. 


Case report

A 23-year-old healthy woman (G1P0) was referred to our antenatal unit at 22 weeks of pregnancy for routine sonographic examination. Their family and medical history were unremarkable. The parents were not consanguineous. 


First trimester screening was normal.

We saw the patient several times at different gestational ages. We obtained the following images.

Images 1 and 2: 2D images show fetal head deflexion and normal facial profile. The head circumference and biparietal diameter were normal and no frontal bossing was noticed.


Images 3 and 4: 2D images in different planes showing small and narrow thorax he chest was of abnormal appearance, the thorax was relatively short and slightly narrow. The ribs seemed particularly short too.


Images 5 and 6: 
hyperechogenic kidneys with normal size and mild bowel dilation. 


Images 7-12: fetal biometry showing shortening of the long bones, all of them below percentile 3.


Images 13 and 20: 
hexadactyly of the hands was suspected, and confirmed postnatally.


Images 21 and 22: 
cardiac evaluation with 2D and color Doppler shows a small ventricular septal defect, without signs of tetrallogy of Fallot.


Images 23-26: CT scan was done at 28 weeks of gestational age, and confirmed the bone abnormalities previously described -
all the long bones were less than the expected and abnormally shaped. The hands and feet were disproportionately long. There was no ulnar deviation of hands. All bony structures were of normal density.
Ossification appeared normal and no fractures were evident. The spine was unremarkable. Hexadactyly was difficult to see.



The diagnosis of lethal chondrodysplasia was proposed. An amniocentesis was done and chromosome was normal (46 XX). Mutation FGFR3 was negative. The patient met the genetician and a neonatologist. The parents were informed about the lethal prognosis and decided to continue her pregnancy.  


Different  short-rib-polydactyly syndromes (SRPS) and metatropic dwarfism were suspected. 


At 38 weeks of gestational age, spontaneous labor began, but a C-section was done because of head deflexion.
The female baby weight 2.400 gr and the ultrasound findings were confirmed: a narrow thorax and shortened limbs, postaxial polydactyly and hypoplastic nails in the extremities. The neonate died few minutes later. 


The diagnosis of Short Ribs Polydactyly syndrome was radiologically and clinically confirmed, probably type 4 (Beemer-Langer).


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