Malformative diseases

Articles

• androgen insentivity syndrome
  13 June 2003

  AIS, Reifenstein’s syndrome, complete androgen insensitivity

• Antley-Bixler syndrome
  25 April 2005

  The Antley-Bixler syndrome is a rare autosomal recessive disease which includes musculoskeletal, craniofacial, and urogenital anomalies.
  The most common skeletal anomalies are radiohumeral synostosis, craniosynostosis, multiple joint contractures, arachnodactyly, femoral and ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, and vertebral body anomalies. The facial anomalies include: midface hypoplasia often with choanal stenosis or atresia, proptosis, a (...)

• 46,XY pure gonadal dysgenesis
  9 October 2010

  Digital cases
  Case 271 : 46,XY Pure gonadal dysgenesis. Streak gonad.
  Definition : The 46,XY pure gonadal dysgenesis is more common than the 46,XX pure gonadal dysgenesis.
  Etiology
  DHH germline mutations
  DHH-asssociated gonadal dysgenesis (MIM.233420)
  The syndrome of 46,XY pure gonadal dysgenesis may be sporadic or familial with either X-linked recessive or autosomal recessive patterns of inheritance.
  Some patients have a 45,X/46,XY mosaicism and are close to mixed gonadal (...)

• CHARGE association
  20 September 2004

  CHARGE syndrome, CHARGE disease, CHARGE association

• otopalatodigital syndrome type 2
  15 May 2008

  OPD2

• Cohen syndrome
  25 September 2003

  Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. Increased frequency in Ashkenazi Jewish population and in Finland.
  Synopsis
  short stature
  truncal obesity developing in mid-childhood
  low birth weight
  microcephaly
  short philtrum
  maxillary hypoplasia
  mild micrognathia
  down (...)

• Kartagener syndrome
  24 November 2004

  Siewert syndrome

• NKX2E
  19 June 2005

  NKX2-5

• Proteus syndrome
  25 July 2003

  Definition: Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. A mosaic activating mutation in AKT1 is associated with the Proteus syndrome. (#21793738#)
  Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome.
  Proteus (...)

• Denys-Drash syndrome
  11 February 2004

  Ent. 1967
  Synospsis
  diffuse mesangial sclerosis (DMS)
  male sex reversal (male pseudohermaphrosim)
  Etiology
  constitutional punctual mutations in the WT1 gene (zing-fingers)
  References
  Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
  Case report: WT1 exon 6 truncation mutation and ambiguous (...)

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