Combined limb deficiencies and cranial nerve dysfunction: report of six cases.
Six cases have been presented with combined limb deficiencies and cranial nerve dysfunctions. The major features are congenital disarticulation and congenital amputation associated with various orofacial deficits. Anatomic variations in limb and facial anomalies in these cases, as well as in other cases previously reported; seem to indicate that they are part of a single dysmorphic syndrome rather than a group of distinct clinical syndromes as reported in the past.
D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D005158:Facial Paralysis / Q000151:congenital*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D008844:Micrognathism / Q000150:complications; D013577:Syndrome