Schinzel phocomelia syndrome

Mohamed Elsherif, M.D.

Cairo University, Fetal Medicine Unit, Egypt.

Case report

26-year-old patient, G2 P1 was referred to our department for the ultrasound examination at 20 weeks of pregnancy. She had unremarkable personal and family history with no consanguinity. Patient denied use of drugs, including alcohol and tobacco. She had no history of irradiation or occupational hazards. The first trimester scan was not performed.

During the ultrasound examination at 20 weeks, we observed the following findings:

  • Acrania
  • Micrognathia
  • Phocomelia of the upper extremities
  • Absent external genitalia
  • Micromelia of the lower limbs, short right femur, severed shortened left femur, both fibulas absent, both tibias markedly shortened.

We performed an amniocentesis based on the above findings. The karyotype was a normal, 46 XY.
Patient opted for the pregnancy termination due to a severe findings and lethal prognosis for the fetus.

The X-ray images of the fetal skeleton, after the pregnancy was terminated, confirmed our ultrasound findings and showed scapular hypoplasia and absence of the iliac wings and the pubic bones.

Patient refused the pathology examination for religious reasons.

Images 1-4: 3D images showing fetal head with acrania and micrognathia, note phocomelia of the upper extremities.


Images 5,6: Image 5 shows phocomelia of upper extremities. Image 6 shows markedly shortened lower extremities and absence of the external genitalia.


Images 7,8: Detail of the lower extremities, note the absence of the external genitalia.


Video 1: 3D video shows the extremities and head of the fetus.

Image 9: X-ray of the fetus after pregnancy termination, phocomelia of upper extremities, absence of the pubic bone and iliac wings, hypoplastic femurs and tibias, absent fibulae.

Schinzel 10

Images 10,11,12: Images of the fetus after pregnancy termination which correspond very nicely with the 3D images above, acrania, phocomelia, absent external genitalia.

Schinzel 13

The diagnosis was based on major findings: phocomelia, acrania and pelvis hypoplasia. Schinzel phocomelia syndrome (Al-Awadi/Raas-Rothschild syndrome; Limb/Pelvis-hypoplasia/aplasia syndrome) is a rare anomaly with autosomal recessive inheritence pattern. Disease gene is located on the 3p25 chromosome. Major clinical findings are limb deficencies and absent or hypoplastic pelvic bones.

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