Malformations

Articles

• CPAM type 2
  17 June 2005

  CCAM type II, CCAM type 2, congenital cystic adenomatoid malformation type 2, congenital pulmonary airway malformation type 2,

• micromelia
  5 July 2005

  short limbs

• omphalocele
  27 August 2004

  exomphalos; omphalocoele WKP
  Definition: Omphalocele is a rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of failure of normal return of intestines and other contents back to abdominal cavity during around ninth week of intrauterine development.
  Omphalocele occurs in 1/4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), (...)

• meningocele
  12 January 2005

  Definition: A meingocele is a type of spina bifida in which the spinal cord develops normally but the meninges protrude from a spinal opening. It is a saccular herniation of meninges and cerebrospinal fluid through a bony defect of the spine.
  Localization
  cranial meningocele occipital meningocele
  thoracic meningocele
  lumbosacral meningocele
  lumbar meningocele
  thoracolumbar meningocele
  sacral meningocele
  anterior sacral meningocele sacral defect with anterior meningocele (...)

• congenital diaphragmatic hernia
  15 December 2004

  Congenital diaphragmatic hernia occurs about once in each 3,000 newborns and is associated with a 30 to 60% mortality rate with significant morbidity among survivors.
  The pathologic consequences of CDH result from the abdominal contents entering the thoracic cavity. Hypoplasia of the lung due to decreased thoracic volume compromises pulmonary capacity and often results in neonatal death.
  Types
  paravertebral type or posterolateral type (Bochdalek type) (80%)
  parasternal type (in the (...)

• platyspondyly
  5 July 2005

  Etiology (Exemples)
  thanatophoric dysplasia

• cleft lip/palate
  9 November 2004

  cleft lip and palate, orofacial cleft

• encephaloceles
  12 January 2005

  meningoencephalocele, encephalocele

• renal hypodysplasia
  9 February 2007

  Definition: Renal hypodysplasia (RHD) is characterized by reduced kidney size and maldevelopment of the renal tissue following abnormal organogenesis.
  Renal hypodyspasia associates bilateral non-obstructive renal dysplasia (BNORD) and bilateral non-obstructive renal hypoplasia(BNORH).
  Renal hypodysplasia is characterized by a decrease in nephron number, a small overall kidney size, and a maldeveloped renal tissue.
  Types
  non-syndromal renal hypodysplasia (HP.10934) (MIM.610805) (...)

• gonadal agenesis
  17 January 2007

  Types
  testicular agenesis
  ovarian agenesis
  Etiology (Example)
  constitutional monosomy X (Turner syndrome)
  See also
  streak gonad
  Agenesis

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