Malformative associations

• XX maleness and Wiskott-Aldrich syndrome
  21 October 2011

  XX intersex, XX DSD

• congenital lobar emphysema associated with polysplenia syndrome
  9 March 2011

  References
  Congenital lobar emphysema associated with polysplenia syndrome. Choh NA, Choh SA, Jehangir M, Naikoo BA. Ann Saudi Med. 2010 Nov-Dec;30(6):482-4. PMID: #20864788# [Free]

• omphalocele-alveolar capillary dysplasia association
  14 October 2010

  References
  Omphalocele and alveolar capillary dysplasia: a new association. Gerrits LC, De Mol AC, Bulten J, Van der Staak FH, Van Heijst AF. Pediatr Crit Care Med. 2010 May;11(3):e36-7. PMID: #20453609#

• congenital pulmonary airway malformation and renal malformations
  7 April 2010

  CPAM and renal malformations, congenital cystic adenomatoid malformation and renal malformations, CCAM and renal malformations

• multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma
  25 February 2010

  See also
  multiple digital glomuvenous malformations
  epidermal naevus
  temporal alopecia, heterochromia
  abdominal lipoblastoma
  References
  A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. Hill S, Rademaker M. Clin Exp Dermatol. 2009 Dec;34(8):e862-4. PMID: #20055849#

• glomerulocystic kidney disease and hepatoblastoma
  18 February 2010

  hypoplastic glomerulocystic kidney disease and hepatoblastoma

• neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
  16 June 2008

  Synopsis
  neonatal diabetes
  intestinal atresias
  gall bladder agenesis
  Overlapping patterns
  intestinal malrotation
  biliary atresia
  pancreatic hypoplasia
  Candidate genes<
  monogenic forms of diabetes: KCNJ11, ABCC8, GCK, IPF1, HNF1beta
  NeuroD1
  TCF7L2
  HNF6
  References
  Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall (...)

• Hirschsprung disease with limb anomalies
  1 May 2008

  HSCR with limb anomalies

• holoprosencephaly-polydactyly association
  4 April 2008

  Etiology
  trisomy 13
  holoprosencephaly-polydactyly syndrome (HPS) (pseudotrisomy 13)
  See also
  malformative associations

• holoprosencephaly-polydactyly syndrome
  4 April 2008

  Holoprosencephaly-Polydactyly syndrome, pseudotrisomy 13

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