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