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2016-03-22  Case of the week # 422  © Islam Badr  www.TheFetus.net

Answer to the case of the week # 422
June 9, 2016 - June 23, 2016 
Islam Badr M. Sc.1 ; Sameh Abdel Latif Abdel Salam M. Sc2.

1.Fetal medicine unit, Cairo university, Egypt

2. Radiodiagnosis department, Kasr Alainy teaching hospitals, Cairo university,Egypt

Case Report

A 30-year old female patient (G6P5) was referred to our unit at 25 weeks of gestation due to polyhydramnios Her 2nd , 3rd and 5th pregnancies ended in three fetuses with multiple congenital anomalies who died shortly after birth. The causes of those anomalies were not documented.  Her history revealed positive consanguinity. 

Our ultrasound examination confirmed the presence of polyhydramnios and also revealed the following findings:

  • Persistently open mouth and eyes. This finding was constant during the whole scan.
  • Eyelids were retracted, echogenic and thick. The gray scale ultrasonic aspect of eyelids resembled a ¨thick equal sign" which we think is very helpful in identification of the retracted eyelids.
  • Hands were partially open.
  • Maximum inversion mode of the fetal shoulder area revealed absent clavicle (delayed mineralization).
  • Hypertelorism which was evident both in 2D and 3D surface rendering modes.
  • Micrognathia.
  • Maximum inversion mode in the frontal area of the skull revealed open metopic suture and wide anterior fontanelle.


Images 1, 2, 3 and video 1: Demonstrate the persistently open mouth and eyes. This finding was constant during the whole examination. Note that the eyelids are retracted over the eye which will demonstrated better in the subsequent images.

  



Images 4, 5, 6:
 2D and volumetric mode images showing the retracted eyelids. Note that because of the retraction, the eyelids are highly echogenic and thick in comparison to normal. We recommend that the aspect created by eyelids can be called "The Thick Equal Sign" and can be very helpful in identification of retracted eyelids in restrictive dermopathy.

 




Images 7,8:
2D and 3D images showing hypertelorism.

  




Images 9.10:
Reconstructed coronal plane showing the open metopic suture.

  




Image 11:
 3D image shows micrognathia.





Images 12, 13, 14 and videos 2, 3, 4 :
 2D and 3D images showing the contractures in upper limb joint and their fixed position in relation to the fetal trunk. The hands are persistently semiclenched.

   




Images 15, 16:
Maximum mode rendering at the area of the fetal shoulder showing the delayed mineralization of the fetal clavicles which are still absent in this stage of pregnancy.

  





Image 17: 2D image shows polyhydramnios.




Based on this ultrasonic examination our prenatal diagnosis was restrictive dermopathy. After counseling the parents opted for termination of the pregnancy. External morphologic criteria of the fetus confirmed our diagnosis. Because of religious beliefs the parents denied permision to take photographs of the fetus.


Restrictive dermopathy is characterized by tightness of skin resulting in global contractures in different regions of the body. From a prenatal ultrasonographic prospective, this lead to characteristic facial morphology, fetal hypokinesia, contractures in multiple joints and clavicular dysplasia. The hands are open or semiclenched with increase in amount of amniotic fluid. The characteristic facial morphology compromises mainly of persistently open mouth and eyes together with micrognathia. The differential diagnosis includes congenital harlequine icthyosis (flat profile, ectropion, eclapion and fixed flexed fingers and toes) and FADS but the facial morphology is characteristic of restrictive dermopathy.


References:

1. Lee SI, Hong CH, Cheong YH, Kang MS, Sin JB. A case of restrictive dermopathy. Korean Journal of Pediatrics2007; 50(3): 306-10.

2. Jagadeesh S, Bhat L, Suresh I, Muralidhar SL. Prenatal diagnosis of restrictive dermopathy. Indian Pediatrics 2009; 46: 349-51.

3.Paladini D, Volpe P: Chromosomal and nonchromosomal syndromes. In: Paladini D, Volpe P (editors): Ultrasound of congenital fetal anomalies. 2nd edition, CRC Press; 2014. CH.10: P. 383-436.

4. Magdy I, Islam I, Abdel Salam SA. Congenital harlequin icthyosis: case report. TheFetus.net 2015; Case of the week # 408.

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