Congenital anal anomalies in two families with the Opitz G syndrome.

Abstract

Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling.

BBBG syndrome or opitz syndrome: New family

“…However, in a G syndrome case described by Frias and Rosenbloom [1975], as in our own cases, the grandfather has true facial asymmetry. The widow's peak, described as frequently present in the BBB syndrome, is also found in patients with the G syndrome [Farndon and Donnai, 1983;Tolmie et al, 1987, case 2; our own cases 1 and 21. The narrow palpebral fissures reported in the G syndrome are also seen in the BBB family reported by Biasini et al [1980].…”

“…Common manifestations included hypertelorism, hypospadias, and, in a number of cases, facial clefts, cardiopathy, uropathy, dermatoglyphic anomalies, and mental retardation. several G syndrome families, the clinical manifestations of certain probands resemble the BBB syndrome: the father in the family described by Farndon and Donnai [19831, the grandfather in Frias and Fbsenbloom's family [19751, and the probands in the cases described by Einfield et al 119871 and by Tolmie et al [1987]. It is probable that the appearance of the nasal bridge depends more on the degree of hypertelorism.…”

“…Using the criteria defined by Opitz in the original papers [Opitz et al, 1969a,bl, we have collected in the literature 33 families with G syndrome [Opitz et al, 1969a;Coburn, 1970;Little and Opitz, 1971;Gilbert et al, 1972;Kasner et al, 1974;Van Biervliet and Van Hemel, 1974;Frias and Rosenbloom, 1975;Pedersen et al, 1976;Dodero et al, 1977;Miller et al, 1977;Cordero and Holmes, 1978;Funderburk and Stewart, 1978;Greenberg and Schraufnagel, 1979;Arya et al, 1980;Cote et al, 1981;Kien et al, 1981;Sauer and Hollwarth, 1981;Farndon and Donnai, 1983;Chemke et al, 1984;Somer and Westerlund, 1984;Bolsin and Gillbe, 1985;Einfeld et al, 1987;Neri et al, 1987;Tolmie et al, 1987;Williams and Frias, 19871. Furthermore, we ascertained 18 families with BBB syndrome [Christian et al, 1969;Opitz et al, 196910;Michaelis and Mortier, 1972;Reed et al, 1975;Cordero and Holmes, 1978;Gonzalez et al, 1978;Funderburk and Stewart, 1978;Biasin et al, 1980;Da Silva, 1983;Halal and Farsky, 1981;Stoll et al, 19851. Most of these cases were reviewed by Funderburk and Stewart [ 19781 who delineated the differential diagnosis between the two syndromes.…”

Opitz GBBB syndrome: Chromosomal evidence of an X‐linked form

“…Fifteen years after the original report (in which undocumented male-to-male transmission could have occurred), the first male-tomale transmission of G syndrome was reported [Farndon and Donnai, 19831, followed by others [Chemke et al, 19841, leading to its transfer to the dominant disorder section of MIM. Male-to-male transmission of BBB syndrome occurred in several families [Stoll et al, 1985;Tolmie et al, 1987;Wilson and Oliver, 19881. BBB and G phenotypes occurred simultaneously in families [Cappa et al, 1987;Opitz, 1987;Verloes et al, 1989;Allanson, 19881.…”

Análise por imagem do sistema nervoso central e do fenótipo de indivíduos brasileiros com síndrome de Optiz G/BBB

“…Desde as primeiras descrições, foi definida como uma síndrome com envolvimento primordial da linha média caracterizada principalmente por hipertelorismo, alterações esofágicas, fissuras laringo-traqueo-esofágicas, fissura de palato ou úvula bífida, anomalias cardíacas, hipospádias, anomalias renais, uretrais e anais, e retardo mental (OPITZ; SMITH; SUMMITT, 1965;CAPPA et al, 1987;TOLMIE;COUTTS;DRAINER, 1987 MACPHERSON, 1975;CORDERO;HOLMES, 1978;FUNDERBURK;STEWART, 1978;FARNDON;DONNAI, 1983;STOLL et al, 1985). -MCGINN et al, 1995;FRYBURG;LIN;GOLDEN, 1996;LACASSIE;ARRIAZA, 1996).…”