Fetal pathology - Case records

• Case #14950 - Fetal akinesia syndrome
  11 May 2009
• Case #14948 - Asplenia and multiple malformations
  11 May 2009

  Synopsis
  asplenia
  cardiovascular malformations persistent arterial trunk right aortic arch (right aorta) interventricualr communication aberrant left sub-claviar artery
  abnormal intestinal rotation
  medial liver
  right hand syndactyly 4-5
  bilateral feet syndactyly 1-2-3
  hand oligodactyly
  short femur
  bilateral cleft lip/cleft palate
  facial dysmorphism prominent nasal root low-set ears hypertelorism
  bilateral transverse palmar crease
  short neck
  bilateral club foot (...)

• Case #13535 - Holoprosencephaly with associated malformations
  16 April 2008

  Synopsis
  fetus, 21 weeks. 385g.
  alobar holoprosencephaly (dilated unique ventricle)
  facial dysmorphism
  acrocephaly
  flat forehead
  hypotelorism
  flat nose with unique nare
  medial labial cleft
  medial anterior gingival cleft
  ogival palate
  low set ears with posterior rotation
  left diaphragmatic hernia with membranous diaphragm
  slight left heart hypoplasia
  ascending aorta hypoplasia
  slight left ventricular hypoplasia
  pulmonary hypoplasia
  post-axial polydactyly (...)

• Case #13394 - Caudal dysplasia with agenesis of lower limbs (maternal diabetes)
  3 March 2008

  Synopsis
  Etiology
  maternal diabetes

• Case #13378 - Amniotic band sequence
  28 February 2008

  Female fetus. 19 weeks. 159 g.
  See also
  amniotic band sequence
  amniotic bands
  placental amniotic bands

• Case #12772 - Four limbs ectrodactyly and cardiac malformations
  27 November 2007

  Synopsis
  fetus, 24 weeks
  facial dysmorphism
  long philtrum
  thin superior lip
  micrognathia
  retrognathia
  four limbs ectrodactyly
  cardiac malformations
  pulmonary artery hypoplasia
  interventricular septal defect (membranous septum)
  right aortic arch
  great vessels malposition
  Diagnostic hypothesis
  acro-cardio-facial syndrome (ACFS)
  CCGE association: cleft palate, cardiac defect, genital anomalies, and ectrodactyly
  References
  Mingarelli R, Zuccarello D, Digilio MC, (...)

• Case #12762 - Megacystis sequence - Prune Belly sequence
  26 November 2007
• Case #12697 - Multiple intestinal atresia syndrome
  5 November 2007

  See also
  digestive atresias intestinal atresias
  multiple intestinal atresia syndrome

• Case #12687 - Ectrodactyly and great vessel malformations
  1 November 2007

  Synopsis
  four limbs ectrodactyly hand ectrodactyly foot ectrodactyly
  great vessel malformations severe pulmonary artery hypoplasia anomaly of great vessel position right aortic arch truncus artriosus between left brachiocephalic truncus and hypoplastic left pulmonary artery
  See also
  limb malformations
  malformative combinations

• Case #12063 - Alobar holoprosencephaly
  23 July 2007

  Synopsis
  Fetus, female, 20 weeks
  alobar holoprosencephaly
  facial dysmorphism arhinia medial nasolabiopalatal cleft (medial cleft lip/medial cleft palate) hypotelorism bilateral exophtalmy
  See also
  cerebral malformations
  holoprosencephaly sequence

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