The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes.
The Robin sequence is a pathogenetically and etiologically heterogeneous conditions that can be an isolated defect or one feature of many different syndromes. The association of this pattern of malformation with neuromuscular conditions has been alluded to in the literature but not well documented. We report a family with a distinct neuromuscular condition that includes the Robin sequence and discuss the human syndromes and animal models in which the Robin sequence occurs.
D000328:Adult; D000818:Animals; D002972:Cleft Palate / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009468:Neuromuscular Diseases / Q000150:complications* / Q000235:genetics; D010855:Pierre Robin Syndrome / Q000150:complications / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D014059:Tongue / Q000002:abnormalities