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An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
J Med Genet. 1995 Jan; 32(1):72-4.JM

Abstract

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

Authors+Show Affiliations

Department of Medical Genetics, Bambino Gesù Hospital, IRCCS, Salita S Onofrio 4, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7897634

Citation

Giannotti, A, et al. "An Autosomal Recessive Syndrome of Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (CCGE)." Journal of Medical Genetics, vol. 32, no. 1, 1995, pp. 72-4.
Giannotti A, Digilio MC, Mingarelli R, et al. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). J Med Genet. 1995;32(1):72-4.
Giannotti, A., Digilio, M. C., Mingarelli, R., & Dallapiccola, B. (1995). An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). Journal of Medical Genetics, 32(1), 72-4.
Giannotti A, et al. An Autosomal Recessive Syndrome of Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (CCGE). J Med Genet. 1995;32(1):72-4. PubMed PMID: 7897634.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). AU - Giannotti,A, AU - Digilio,M C, AU - Mingarelli,R, AU - Dallapiccola,B, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 72 EP - 4 JF - Journal of medical genetics JO - J Med Genet VL - 32 IS - 1 N2 - We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/7897634/An_autosomal_recessive_syndrome_of_cleft_palate_cardiac_defect_genital_anomalies_and_ectrodactyly__CCGE__ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=7897634 DB - PRIME DP - Unbound Medicine ER -