Tags

Type your tag names separated by a space and hit enter

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.
Am J Med Genet A. 2005 Jul 01; 136(1):84-6.AJ

Abstract

We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals.

Authors+Show Affiliations

IRCCS-CSS San Giovanni Rotondo and CSS-Mendel Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15937946

Citation

Mingarelli, Rita, et al. "A New Observation of Acro-cardio-facial Syndrome Substantiates Interindividual Clinical Variability." American Journal of Medical Genetics. Part A, vol. 136, no. 1, 2005, pp. 84-6.
Mingarelli R, Zuccarello D, Digilio MC, et al. A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. Am J Med Genet A. 2005;136(1):84-6.
Mingarelli, R., Zuccarello, D., Digilio, M. C., & Dallapiccola, B. (2005). A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. American Journal of Medical Genetics. Part A, 136(1), 84-6.
Mingarelli R, et al. A New Observation of Acro-cardio-facial Syndrome Substantiates Interindividual Clinical Variability. Am J Med Genet A. 2005 Jul 1;136(1):84-6. PubMed PMID: 15937946.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. AU - Mingarelli,Rita, AU - Zuccarello,Daniela, AU - Digilio,Maria Cristina, AU - Dallapiccola,Bruno, PY - 2005/6/7/pubmed PY - 2005/8/11/medline PY - 2005/6/7/entrez SP - 84 EP - 6 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 136 IS - 1 N2 - We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15937946/A_new_observation_of_acro_cardio_facial_syndrome_substantiates_interindividual_clinical_variability_ L2 - https://doi.org/10.1002/ajmg.a.30770 DB - PRIME DP - Unbound Medicine ER -