Article
Fryns syndrome with vertebral defects: a novel association in a Mexican infant.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2014
Salinas-Torres V M, Rivera H
Abstract excerpt
We report a Mexican mestizo 2 months old male with Fryns syndrome and vertebral defects. The patient's phenotype included typical craniofacial dysmorphism, short neck, agenesis of the corpus callosum, congenital left diaphragmatic hernia, complex heart disease, C1 to C6 vertebral agenesis with increased interpedicular space, thoracic rotoscoliosis, broad medial ends of the clavicles, brachytelephalangy of hands...
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