Genée‐wiedemann syndrome in a family

A variant or a “new” postaxial acrofacial dysostosis syndrome

“…Additionally, the radiographic documentation is often insufficient or even absent [4,5,7,8,10,14,16,18,19].…”

Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses

“…Additional findings may be congenital heart defects, urogenital, CNS anomalies, and mental retardation (Table I), nevertheless mental retardation may be in some cases eventually due to hearing loss [Chrzanowska and Fryns, 1993al. In contrast to GWAFD in NAFD [Nager and de Reynier, 19481 the preaxial ray is affected, but the craniofacial anomalies in the NAFD are essentially the same as in the GWAFD [Hecht et al, 1987;Gorlin et al, 19901 and fit those in our patient. Additional anomalies stein and Mirkin, 1988;Hall, 1989;Palomeque et al, 1990;Aylsworth et al, 1991;Bonthron et al, 1993;Petit et al, 1993;Zori et al, 19931, further cases with GWAFD [Robinow et al, 1986;Donnai et al, 1987;Meinecke and Wiedemann, 1987;Opitz and Stickler, 1987;Fryns and Van den Berghe, 1988;Hauss-Albrecht and Passarge, 1988;Chrzanowska et al, 1989;Barbuti et al, 1989;Richieri-Costa and Guion-Almeida, 1989a,b;Robinow and Chen, 1990;Ogilvy-Stuart and Parsons, 1991;Vigneron et al, 1991;Giannotti et al, 1992;Fryns, 1993b1, and9 unclassified lethal cases [Poissonnier et al, 1983;Brunoni et al, 1987;Le Merrer et al, 1989;Stephan, 1990;Fryns and Kleckowska, 1991;Petit et al, 19921. Since the peculiar facial appearance in combination with preaxial ray deficiency is defined to be related to NAFD and with postaxial ray deficiency to GWAFD, our case could be called NAFD looking at the left hand and GWAFD looking at the right hand. Rodriguez et al [ 19901 and then Petit et al [ 19931 published similar observations, though their cases did not show the striking combination of digital p...…”

“…Several suggestions about the etiology and the inheritance pattern have been made. Most cases are sporadic, but autosomal dominant inheritance with variable expression [Robinow et al, 1986;Meinecke and Wiedemann, 1987;Le Merrer et al, 1989;Hall, 1989;Robinow and Chen, 1990;Alysworth et al, 1991;Chrzanowska et al, 1991;Mc Donald and Gorski, 1993;Bonthron et al, 19931, as well as affected sibs of healthy parents [Burton and Nadler, 1977;Fineman, 1981;Pfeiffer and Stoess, 1988;Hecht et al, 1987;Opitz and Stickler, 1987;Chemke et al, 1988;Ogilvy-Stuart and Parsons, 1991;Giannotti et al, 1992;Chrzanowska and Fryns, 1993bl and consanguinity in some cases [Burton and Nadler, 1977;Kawira et al, 19841 have been observed in NAFD and GWAFD. It appears that the dominant and recessive phenotype cannot be distinguished at this time.…”

A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family—remarks on the mode of inheritance: Report on two sibs

“…According to formulas given by Dahlberg 119471 C = (a(l + 15q))/(a + 16q -aq), where C is the frequency of first-cousin marriages among the parents of children with any particular autosomal recessive dis-i.e., the gene frequency is less than Genee [1969], Wiedemann [19731, Pashayan and Feingold [19751, Wildervanck [1975], Smith and Jones [19751, Miller et al 119791, Poissonnier et al [19831, Meinecke and Rauskolb [19821, Donnai et al [19871, Meinecke and Wiedemann [1987], Fryns and Van den Berghe [19881, Hauss-A-lbert and Passarge [19881, Chryzanowska et al [1989], Barbuti et al 119891, Vigneron et al 119911. Familial cases: Miller et al [19791, Fineman [1981], Robinow et al [1986], Meinecke and Wiedemann 119871, Opitz and Stickler [1987], Chryzanowska et al 119891, Richieri-Costa and Guion-Almeida [1989], Robinow and Chen [1990], Ogilvy-Stuart and Parsons [19911, Gianotti et al [1992], Pereira et al [19921, Chryzanowska and Fryns 11993a1. order, a is the frequency of first-cousin marriages in the general population, and q is the frequency of the auto-soma1 recessive gene. If q is small, as in the case of the Genee-Wiedemann syndrome this formula simplifies to C = a/(a + 16q).…”