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Case #11247 - Tetraphocomelia and renal agenesis

Thursday 23 March 2006

Synopsis

- femal fetus, 20 weeks, 181g
- 46, XX
- severe oligohydramnios
- intra-uterine growth retardation (IUGR)
- medial posterior cleft palate medial posterior
- short neck
- hypertelorism

- facial dysmorphism

  • microtia/anotia
  • severe micrognathia (severe mandibular hypoplasia)
  • long philtrum
  • severe hypoplasia of nasal bones
  • flat nose
  • choanal atresia

- narrow thorax

  • ten gracile ribs

- phocomelia (tetraphocomelia)

  • four very short limbs

- upper limb anomalies

  • bilateral short humerus (bilateral humeral hypoplasia)
  • right radial agenesis
  • right cubital agenesis
  • bilateral oligodactyly
  • right 4th-5th finger syndactyly
  • right 2th-3th finger syndactyly
  • left radial agenesis
  • left cubital hypoplasia
  • bilateral club hand
  • upper limb post-axial hexadactyly
  • thumb anomalous implantation
  • bilateral thumb hypoplasia
  • bilateral incomplete thumb

- lower limb anomalies

  • bilateral very short lower limbs
  • bilateral femoral hypoplasia
  • bilateral fibular aplasia
  • bilateral tibial aplasia
  • bilateral anomalous feet position
  • bilateral lower limb pre-axial hexadactyly
  • foot 2th-3th digits syndactyly
  • quadriplication hallux

- renal agenesis

- vertebral malformations

  • sacral agenesis
  • pelvic agenesis

Diagnostic hypothesis

- Roberts syndrome
- Otopalatodigital syndrome type 2 (MIM.304120)

Candidate genes

- ?

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