Case #10040 - Microcephaly, anorectal agenesis, vertebral anomalies

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)