A "community" of face-limb malformation syndromes.
A boy with faciodigital malformations is reported who bears a striking resemblance to Charlie M, a patient described by Gorlin as representing a new syndrome, and to two other previously reported patients. One may interpret this as supporting the validity of the "Charlie M" syndrome as a nosologic entity. However, these patients share a number of features with several other face-limb malformation syndromes. We suggest that these syndromes form a "community," in which the overlapping phenotypes of the member syndromes reflect underlying developmental relationships.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002972:Cleft Palate; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007569:Jaw Abnormalities / Q000175:diagnosis; D007621:Karyotyping; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000235:genetics; D014034:Toes / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000175:diagnosis