Introduction: In 1978 the authors studied a male gypsy child with a multiple malformation syndrome. In this gypsy colony further five cases were found with similar features. The characteristic syndrome was published in 1980. Subsequently, the syndrome has been quoted as Váradi-Papp syndrome. Aim: To present the 25-year follow-up of this multiple malformation syndrome. Results: The most common features of 29 affected children with this syndrome consists of orofacial (facial dysmorphism, cleft lip and/or palate abnormality, lingual nodule or tumor of the tongue, buccoalveolar frenula, alveolar and dental abnormalities, strabismus), cerebral/cerebellar (deformation of the skull, semilobar holoprosencephaly and/or absence or dysgenesis of cerebellar vermis or corpus callosum or hypothalamus or pituitary gland), digital (metacarpal abnormalities with central polydactyly, reduplication of the big toes) and genital (cryptorchidism, micropenis) anomalies. The patients are growth-retarded and when survival occurs psychomotor retardation is present. Accumulation of consanguinity and because of the involvement of multiple siblings in these families supports the autosomal recessive inheritance. Conclusion: Fetal Váradi-Papp syndrome using ultrasonography in the mid-trimester both in routine screening and detailed scanning can be detected, and termination of pregnancy can be offered to the parents.
|Translated title of the contribution||25 Years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI)|
|Number of pages||6|
|Publication status||Published - Dec 1 2005|
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