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A "community" of face-limb malformation syndromes.
J Pediatr. 1976 Aug; 89(2):241-7.JPed

Abstract

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

940017

Citation

Kaplan, P, et al. "A "community" of Face-limb Malformation Syndromes." The Journal of Pediatrics, vol. 89, no. 2, 1976, pp. 241-7.
Kaplan P, Cummings C, Fraser FC. A "community" of face-limb malformation syndromes. J Pediatr. 1976;89(2):241-7.
Kaplan, P., Cummings, C., & Fraser, F. C. (1976). A "community" of face-limb malformation syndromes. The Journal of Pediatrics, 89(2), 241-7.
Kaplan P, Cummings C, Fraser FC. A "community" of Face-limb Malformation Syndromes. J Pediatr. 1976;89(2):241-7. PubMed PMID: 940017.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A "community" of face-limb malformation syndromes. AU - Kaplan,P, AU - Cummings,C, AU - Fraser,F C, PY - 1976/8/1/pubmed PY - 1976/8/1/medline PY - 1976/8/1/entrez SP - 241 EP - 7 JF - The Journal of pediatrics JO - J Pediatr VL - 89 IS - 2 N2 - 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. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/940017/A_"community"_of_face_limb_malformation_syndromes_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(76)80456-8 DB - PRIME DP - Unbound Medicine ER -