-->
Home > H. Case records > Fetal pathology - Case records > Case #10087 - Unilateral lower limb hypoplasia and urethral atresia (...)

| PubMed | eMedicine | OMIM | Google | Google images | Yahoo images | YouTube |

  • Printer friendly version

Case #10087 - Unilateral lower limb hypoplasia and urethral atresia sequence

Cystic hygroma, bilateral lower limb hypoplasia Cystic hygroma, bilateral lower limb hypoplasia Cystic hygroma, bilateral lower limb hypoplasia Cystic hygroma, bilateral lower limb hypoplasia Cystic hygroma, bilateral lower limb hypoplasia Urethral obstruction sequence with megacystis and hydronephrosis. Caudal (...) Urethral obstruction sequence with megacystis and hydronephrosis. Caudal (...) Cystic hygroma, bilateral lower limb hypoplasia Cerbellar hypoplasia Cerbellar hypoplasia Bilateral pulmonary hypoplasia Bilateral pulmonary hypoplasia

Fetus, 20 weeks. 46,XX

Synopsis

- intra-uterine growth retardation (IUGR)
- cystic hygroma

- facial dysmorphism

- membranous interventricular septal defect (interventricular communication)

- caudal regression sequence (caudal dysplasia)

- urethral atresia with urethral obstruction sequence (UOS)

- cerebral anomalies

  • partial cerebellar agenesis
  • corpus callosum agenesis
  • neuronal migration anomalies
    • focal polymicrogyria
  • cerebral focal necrosis
    • neuritic calcifications
    • focal calcifications
  • partial holoprosencephaly
    • interhemispheric cortical fusion - parasagittal fusion
    • lobar holoprosencephaly
  • verrucous dysplasia
  • syringomyelia

- oligohydramnios sequence (Potter sequence)

  • flat nose
  • micrognathia
  • pulmonary hypoplasia
  • arthrogryposis

- normal female genitalia
- normally perforated anus

- placental hypoplasia

Etiology

- unknown