[Cranio-carpo-tarsal dysplasia or the whistling face syndrome (author's transl)].
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001763:Blepharoptosis; D014695:Cerebral Ventriculography; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000175:diagnosis*; D004569:Electroencephalography; D005124:Eye Abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008865:Microstomia; D012886:Skull / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities
Displasia craneo-carpo-tarsal o síndrome de la cara silbante (a proposito de dos observaciones)