Abstract | 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.
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Authors | Valéria Váradi, Zoltán Papp |
Journal | Orvosi hetilap
(Orv Hetil)
Vol. 146
Issue 39
Pg. 2017-22
(Sep 25 2005)
ISSN: 0030-6002 [Print] Hungary |
Vernacular Title | A Váradi-Papp-szindróma (VI-os típusú orofaciodigitalis szindróma) 25 eves története. |
PMID | 16265870
(Publication Type: Journal Article, Review)
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Topics |
- Humans
- Orofaciodigital Syndromes
(diagnosis, diagnostic imaging, genetics)
- Pedigree
- Radiography
- Ultrasonography, Prenatal
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