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Case #10040 - Microcephaly, anorectal agenesis, vertebral anomalies

Friday 27 October 2006

Malformative association

- anorectal agenesis

  • imperforate anus
  • anal agenesis
  • rectovesical fistula

- 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)

Portfolio

  • 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