The authors report a new case of hand-foot-uterus syndrome, an infrequent and peculiar clinical condition characterized by skeletal anomalies of the extremities associated with alterations in the development of Mullerian derivation structures. The female patient in fact present morphological and skeletal anomalies to the extremities and a bicornate, twin-necked uterus with double vagina. This genetic condition is normally transmitted with a autosomal dominant pattern. The consanguinity of the parents and the absence of other like cases in the family led the authors to suppose that this is an even rarer form with a recessive autosomic-type inheritance. The importance of an accurate diagnosis is underlined not only to ensure better management, but above all for a more appropriate examination of their reproductivity.

Hand-foot-uterus syndrome: a report of a case with recessive autosomal inhereditance

CARLO STELLA, Narciso;CORRADO, Francesco;TRIOLO, Onofrio
1993-01-01

Abstract

The authors report a new case of hand-foot-uterus syndrome, an infrequent and peculiar clinical condition characterized by skeletal anomalies of the extremities associated with alterations in the development of Mullerian derivation structures. The female patient in fact present morphological and skeletal anomalies to the extremities and a bicornate, twin-necked uterus with double vagina. This genetic condition is normally transmitted with a autosomal dominant pattern. The consanguinity of the parents and the absence of other like cases in the family led the authors to suppose that this is an even rarer form with a recessive autosomic-type inheritance. The importance of an accurate diagnosis is underlined not only to ensure better management, but above all for a more appropriate examination of their reproductivity.
1993
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/2345424
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