Abstract
In 1978, Temtamy and mcKusick reported a family observed by Tabatznik in which the affected patients had upper limb malformations and cardiac arrhytmia Dominant either auto somal or X linked, inheritance was proposed. Hand malformations included brachytelephalangy of the thumb and mild shortening of the IV and V metacarpals. Phenotyfrically, all the affected individuals had, among other features, sloping shoulders and short upper limbs.
After that first report, Lala et al., in 1990, published a family in which the 8-year-old proband had similar cardiac and upper limb anomalies than the cases of Tabatznik, in addition to another features such as facial dysmorphism, cryptorchidism and mild mental retardation.
In 1980, Ruiz de la Fuente and Prieto reported on what they called a new type of autosomal dominant heart-hand syndrome (type III). In that form, affected patients had type C brachydactyly associated with cardiac arrhytmias. No upper limb anomalies, beside those of hands and feet, were observed. The cardiac arrhytmias consisted of intraventricular conduction defects and sick sinus syndrome.
Here, we present a new case of Heart-Hand syndrome type II in a 8-year-old girl who had bilateral IV and V short metacarpals and metatarsals, and cardiac arrhytmia consisting in abnormal migration of sinusal pacemaker. She also had a mild mitral and tricuspid prolapse without clinical symptoms. She had some facial dysmorphic features and normal intelligence. Family history showed the presence of hand anomalies in some individuals of the maternal side.
Differential diagnosis with other Heart-Hand syndrome types will be discussed.
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Ramos, F., Bueno, I., Olivares, J. et al. Heart-hand syndrome II (Tabatznik syndrome): A new case with mild phenotype. Genet Med 1, 60 (1999). https://doi.org/10.1097/00125817-199901000-00078
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DOI: https://doi.org/10.1097/00125817-199901000-00078