منابع مشابه
VACTERL-H Association and Fanconi Anemia.
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to 2012 identified 108 cases with at least 3 of the defining features of VATER association; only 29 had been so noted by the authors. The FA VATER signature was the significantly higher frequency of renal and limb (radial ...
متن کاملVACTERL association with Prune-Belly syndrome.
We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life.
متن کاملNeonatal Presentations of CHARGE Syndrome and VATER/ VACTERL Association
Neonatologists often care for newborns who have multiple congenital anomalies. The specific diagnosis has implications for the infant’s clinical management. In this article, we examine the neonatal presentations of CHARGE syndrome and VATER/ VACTERL association. Once the features of these two entities are recognized clinically, the appropriate diagnostic evaluations can be initiated. Introducti...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملIs Duane retraction syndrome part of the VACTERL association?
We report here a patient with type 1 Duane's retraction syndrome and multiple congenital abnormalities as a result of the VACTERL association. The presented combination of Duane's retraction syndrome and the VACTERL association has not been reported in the literature. The present case was instructive for reviewing the continuous spectrum of ocular anomalies that accompany the VACTERL association.
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2002
ISSN: 0743-8346,1476-5543
DOI: 10.1038/sj.jp.7210765