[The hand-foot-uterus syndrome. A report of a case with recessive autosomal inheritance].
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.
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Clinica Ostetrica e Ginecologica, Università degli Studi di Messina.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities
Sindrome mano-piede-utero. Descrizione di un caso ad ereditarietà autosomica recessiva.