Fryns syndrome with vertebral defects: a novel association in a Mexican infant.
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 and feet with fingers axially deviated, and nail hypoplasia. Renal and chromosomal evaluations were normal. Since this is the first description of cervical vertebrae agenesis and thoracic rotoscoliosis in Fryns syndrome, we propose that these clinical and radiological features should be incorporated to the Fryns syndrome phenotype and specifically looked for in other children.
V M
VM
Salinas-Torres
H
H
Rivera
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004413:Dysostoses / Q000151:congenital* / Q000000981:diagnostic imaging; D019066:Facies; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging; D008297:Male; D008800:Mexico; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000151:congenital* / Q000000981:diagnostic imaging; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging