Malformations

Articles

• Agenesis
  14 May 2004

  Definition: Absence of a part of the body caused by an absent anlage (primordium). (see: Aplasia)
  According to the organ involved
  pulmonary agenesis
  renal agenesis
  gonadal agenesis testicular agenesis ovarian agenesis
  bone agenesis radial agenesis
  digital agenesis

• 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 (...)

• foveal hypoplasia
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• anal canal duplication
  14 March 2005

  ACD, anal duplication

• bilateral renal hypoplasia
  3 March 2005

  Types
  bilateral renal hypoplasia with abnormal microscopy bilateral simple renal hypoplasia
  bilateral renal hypoplasia with abnormal microscopy bilateral oligomeganephronic renal hypolasia (oligomeganephronie)
  Differential diagnosis
  bilateral hypoplastic renal dysplasia (renal hypodysplasia)
  Etiology (exemples)
  chromosomal diseases trisomy 21 (15%) trisomy 22
  papillorenal syndrome (renal-coloboma syndrome) (...)

• Dandy-Walker malformation
  23 May 2007

  Dandy-Walker malformation is defined by cerebellar vermis hypoplasia with upward rotation and cystic dilation of the fourth ventricle. Dandy-Walker malformation is a common but poorly understood congenital cerebellar malformation in humans.
  Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus.
  DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 (...)

• splenotesticular fusion
  16 March 2011

  Digital slides
  Case 19 : Spleno-testicular fusion
  Synopsis
  splenogonadal fusion
  elongated spleen connected with gonad (testsi or ovary) possible colonic compression or stricture
  splenic nodule on gonad
  continuous splenic tissue from left hypochondre to gonad
  Associations
  limb deficiency (#9386063#) ectromelia
  micrognathia (#9386063#)
  See also
  splenic malformations
  References
  Splenogonadal fusion with limb deficiency and micrognathia. Moore PJ, Hawkins EP, Galliani (...)

• ovotesticular DSD
  19 October 2007

  ovotesticular disorder of sexual differentiation, true hermaphroditism, true hermaphrodism

• ocular coloboma
  13 May 2005

  Definition: Incomplete closure of the fissure of the embryonic optic cup, which mainly affects the iris.
  Types:
  iris coloboma
  uveal coloboma
  retinal coloboma
  Etiology (Exemples)
  germline mutations in PAX6 (MIM.607108) SHH (sonic hedgehog) (MIM.600725) MAF GDF6 at 8q21.2-q22.1 (MIM.601147)
  See also
  ocular malformations
  references
  Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. GDF6, a novel locus for a (...)

• genital hypoplasia
  29 January 2007

  Definition: Hypoplasia of the genital system.
  Types
  male genital hypoplasia
  female genital hypoplasia
  Case records
  Case 10783: Genital hypoplasia in caudal regression sequence
  See also
  genital malformations

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