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

Friday 3 November 2006

Fetus, 20 weeks. 46,XX

Synopsis

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

- facial dysmorphism

  • long philtrum
  • proeminent upper lip
  • proeminent eyes
  • low-set ears
  • posteriorly angulated ears
  • unfolded helix
  • flat nose
  • short neck
  • micrognathia

- membranous interventricular septal defect (interventricular communication)

- caudal regression sequence (caudal dysplasia)

  • urethral atresia with urethral obstruction sequence (UOS)
    - bilateral lower limb hypoplasia
  • moderate right lower limb hypoplasia
  • severe left lower limb hypoplasia

- urethral atresia with urethral obstruction sequence (UOS)

  • cystic hygroma
  • megacystis and abdominal distension
  • bilateral megaureter
  • bilateral short ureters
  • bilateral hydronephrosis (no obstructive renal dysplasia)

- 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

  • caudal dysgenesis (caudal dysplasia or caudal regression syndrome) ?
  • fetal hypoxia ? vascular disruption sequence ?
  • genetic disease ?

Portfolio

  • 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