Malformative associations

• constriction ring deformity
  5 March 2008

  see amniotic band sequence

• transverse amputation
  5 March 2008

  see amniotic band sequence

• limb reduction defects
  5 March 2008

  limb defects possibly due to vascular disruption in the embryo.
  see also amniotic band sequence

• immunodeficiency, autoimmunity and spondylometaphyseal dysplasia
  11 February 2008

  References
  Kulkarni ML, Baskar K, Kulkarni PM. A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. Am J Med Genet A. 2007 Jan 1;143(1):69-75. PMID: #17163538#
  Roifman CM, Melamed I. A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. Clin Genet. 2003 Jun;63(6):522-9. PMID: #12786759#

• complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence
  5 February 2008

  Synopsis
  lateral and midline cleft upper lip
  ectopic palatal pituitary
  natal teeth
  bilateral nasal proboscides
  absent nose
  microphthalmia
  conjunctival-lined cyst
  right ocular dysgenesis
  bilateral retinal dysplasia
  platybasia
  skull asymmetry
  hydrocephalus secondary to aqueductal atresia
  brain hemispheric asymmetry
  parietal-occipital cortical flap
  agenesis of posterior corpus callosum
  absence of the olfactory nerves
  left anterior cerebral artery (...)

• split-hand/foot malformation with long bone deficiencies
  18 December 2007

  SHFLDs

• radioulnar synostosis and amegakaryocytic thrombocytopenia
  30 November 2007

  Etiology
  HOXA11 germline mutation
  References
  Horvat-Switzer RD, Thompson AA.HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro.Blood Cells Mol Dis. 2006 Jul-Aug;37(1):55-63. PMID: #16765069#
  Thompson, A. A.; Woodruff, K.; Feig, S. A.; Nguyen, L. T.; Schanen, N. C. : Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Brit. J. Haemat. 113: 866-870, 2001. PubMed ID : (...)

• ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.
  28 November 2007

  References
  Saal HM, Bulas DI.Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.Clin Dysmorphol. 1995 Jul;4(3):246-50. PMID: #7551162#

• ectrodactyly and cardiac malformations
  28 November 2007

  Types
  isolated (#7939823#)
  associated association ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery (#1746602#) autosomal recessive association of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE) (#7897634#) associtaion ectrodactyly, diaphragmatic hernia, congenital heart defect and agenesis of the corpus callosum (#7551162#) tibial agenesis-ectrodactyly syndrome with cardiovascular (...)

• ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery
  28 November 2007

  References
  Kasznica J, Carlson JA, Coppedge D.Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery.Am J Med Genet. 1991 Sep 15;40(4):414-6. No abstract available. PMID: #1746602#

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70