Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

Details

Serval ID
serval:BIB_C8A85D56E2E4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.
Journal
Genetic Counseling
Author(s)
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.
ISSN
1015-8146 (Print)
ISSN-L
1015-8146
Publication state
Published
Issued date
2006
Volume
17
Number
4
Pages
449-455
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Review
Publication Status: ppublish
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.
Keywords
Anophthalmos/complications, Consanguinity, Ethnic Groups, Humans, Infant, Italy, Kidney/abnormalities, Limb Deformities, Congenital/complications, Male, Syndactyly/complications, Waardenburg Syndrome/diagnosis
Pubmed
Web of science
Create date
14/03/2011 16:08
Last modification date
20/08/2019 15:43
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