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Case #10040 - Microcephaly, anorectal agenesis, vertebral anomalies

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Microcephaly, fetal immotility sequence Microcephaly, fetal immotility sequence Anal imperforation, microcephaly, fetal immotility sequence D12-L2 ertebral anomalies D12-L2 ertebral anomalies D12-L2 ertebral anomalies and abdominal calcifications D12-L2 ertebral anomalies and abdominal calcifications Anal imperforation, stiff and amyotrophic lower limbs Megacystis with intravesical meconium Lower limb pterygium Multilobated spleen Unilateral renal agenesis, rectovesical fisula, anorectal atresia Unilateral renal agenesis, rectovesical fisula, anorectal atresia Upper limb pterygium D12-L2 vertebral hypoplasia

Malformative association

- anorectal agenesis

- bilateral renal anomalies with unilateral renal agenesis and unilateral obstructive renal dysplasia

  • oligohydramnios (Potter sequence)
    • low-set ears
    • micrognathia
    • small nose
    • flattened nose
    • anteverted nose
    • receding chin
    • deformity of feet
      • bilateral club feet

- microcephaly

  • fetal akinesia sequence (FAS)
    • upper limb pterygia
    • elbow ankylosis
    • lower limb pterygia
    • hip ankylosis
    • knee ankylosis
    • thin, gracile long bones
    • ankle ankylosis
    • talipes equinovarus
    • neurogenic muscle atrophy
    • limb hyperextension hypertony

- radial ray anomalies

  • thumb insertion anomaly
    • proximally inserted thumb

- D12-L1-L2 vertebral hypoplasia

Cytogenetics

- ?

Diagnostic hypothesis

- VATER association
- Townes-Brock syndrome (SALL1 germline mutations)