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Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.
Genet Couns. 2006; 17(4):449-55.GC

Abstract

Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.

Authors+Show Affiliations

Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

17375532

Citation

Garavelli, L, et al. "Anophthalmos With Limb Anomalies (Waardenburg Opththalmo-acromelic Syndrome): Report of a New Italian Case With Renal Anomaly and Review." Genetic Counseling (Geneva, Switzerland), vol. 17, no. 4, 2006, pp. 449-55.
Garavelli L, Pedori S, Dal Zotto R, et al. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns. 2006;17(4):449-55.
Garavelli, L., Pedori, S., Dal Zotto, R., Franchi, F., Marinelli, M., Croci, G. F., Bellato, S., Ammenti, A., Virdis, R., Banchini, G., & Superti-Furga, A. (2006). Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genetic Counseling (Geneva, Switzerland), 17(4), 449-55.
Garavelli L, et al. Anophthalmos With Limb Anomalies (Waardenburg Opththalmo-acromelic Syndrome): Report of a New Italian Case With Renal Anomaly and Review. Genet Couns. 2006;17(4):449-55. PubMed PMID: 17375532.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. AU - Garavelli,L, AU - Pedori,S, AU - Dal Zotto,R, AU - Franchi,F, AU - Marinelli,M, AU - Croci,G F, AU - Bellato,S, AU - Ammenti,A, AU - Virdis,R, AU - Banchini,G, AU - Superti-Furga,A, PY - 2007/3/23/pubmed PY - 2007/5/9/medline PY - 2007/3/23/entrez SP - 449 EP - 55 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 17 IS - 4 N2 - Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/17375532/Anophthalmos_with_limb_anomalies__Waardenburg_opththalmo_acromelic_syndrome_:_report_of_a_new_Italian_case_with_renal_anomaly_and_review_ L2 - http://www.diseaseinfosearch.org/result/7423 DB - PRIME DP - Unbound Medicine ER -