Malformations

Articles

• anencephaly
  21 May 2004

  Definition: Anencephaly is a designation for congenital absence of the cranial vault with cerebral hemispheres completely missing or decreased to small masses attached to the base of the skull. In anencephaly, the absence of the brain and calvaria can be total or partial. Anencephaly is one of the neural tube defects (NTDs).
  The etiology is unknown. Whether the bony tissue or soft brain tissue is a primary factor is also unknown.
  Synopsis
  congenital absence of the cranial vault (...)

• tetralogy of Fallot
  9 January 2005

  Definition: Tetralogy of Fallot is the association of a pulmonary valve stenosis, a ventricular septal defect (VSD), an overriding aorta and a right ventricular hypertrophy.
  Tetralogy of Fallot is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Sib recurrence risk is 1% for tetralogy.
  Videos
  One Minute #CardioEd: Tetralogy of Fallot
  https://twitter.com/arh_cardio/status/856399183154212864
  Types
  autosomal dominant Tetralogy (...)

• vesical diverticulum
  17 March 2006

  See also
  urachal anomalies urachal fistula urachal sinus urachal cyst vesical diverticulum (bladder diverticulum)

• pilonidal sinus
  5 January 2005

  Digital cases
  Case 268 : Caudal pilonidal sinus with nervous tissue
  Variants
  pilonidal sinus cyst
  pilonidal sinus with nervous tissue

• polysyndactyly
  1 December 2004

  Etiology (exemples)
  Greig cephalopolysyndactyly syndrome (MIM.175700) (GLI3 mutations at 7p13)
  acrocephalopolysyndactyly syndromes (ACPS) ACPS1 (acrocephalopolysyndactyly type 1) ACPS2 (acrocephalopolysyndactyly type 2) (Carpenter syndrome) (MIM.201000) ACPS3 (acrocephalopolysyndactyly type 3) (Sakati-Nyhan syndrome) (MIM.101120) ACPS4 (acrocephalopolysyndactyly type 4) (Goodman syndrome) (MIM.201020)
  triphalangeal thumb-polysyndactyly syndrome (MIM.190605) (7q36)
  See also: (...)

• radial ray aplasia
  9 May 2005

  Synopsis
  radial agenesis (radial aplasia)
  thumb agenesis
  Associations: Syndromal types
  VATER association (VACTERL association)
  Fanconi disease (Fanconi syndrome or Fanconi anemia)
  Pallister-Hall syndrome
  Cateye syndrome
  Duane anomaly with thenar hypoplasia (Duane-radial ray syndrome or Okihiro syndrome) (MIM.607323) (SALL4 mutations)
  craniosynostosis with radial defects
  Baller-Gerold syndrome (MIM.218600)
  Saethre-Chotzen syndrome (SCS) (MIM.101400)
  hemifacial (...)

• bilateral radial agenesis
  6 April 2005

  bilateral radial aplasia

• central polydactyly
  6 September 2005

  Definition: Central type polydactyly corresponds to the presence of centrally located supernumerary fingers. It is often associated with other malformations or syndromes.
  See also
  polydactylies

• forearm agenesis
  7 December 2005

  See also
  upper limb agenesis

• radial hypoplasia
  14 April 2005

  Etiology (Exemples)
  orofaciodigital syndrome type 10 (OFD10)
  See also
  radial malformations radial aplasia (radial agenesis)

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