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MG-105 Facial dysmorphism, skeletal abnormalities and central nervous system abnormalities in two sibs born to a consanguineous couple: A new autosomal recessive condition
  1. Lauren Chad1,2,
  2. Megan Thompson3,
  3. Ioana Miron1,
  4. Patrick Shannon2,
  5. Sarah Keating3,
  6. David Chitayat1,2
  1. 1Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada
  2. 2Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
  3. 3Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada


We report two female fetuses born to a consanguineous  Sri-Lankan couple with facial dysmorphism, central nervous system and skeletal abnormalities. To our best knowledge this is a hitherto new autosomal recessive condition.

The fetuses, both female, presented with thickened nuchal folds, echogenic bowel and kidneys, rocker-bottom feet, ventriculomegaly and intrauterine growth restriction. Detailed autopsies following termination of pregnancy at 23.4 and 22.3 weeks gestation respectively revealed short sloped forehead and hypertelorism with webbing of the neck, hydrocephalus with aqueduct stenosis as well as marked narrowing of the spinal canal and platyspondyly with delayed ossification and flattened acetabular roofs, broad hands with brachydactyly and narrow wrists. Microarray analysis was normal on both. These findings likely represent a new genetic syndrome with most probably autosomal recessive mode of inheritance. Whole genome sequencing is being done to try and identify the causative gene.

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