Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred

Abstract

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short stature, craniofacial dysmorphism and dento‐skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, “the K.B.G. syndrome” as described by Hermann et al. (1975), is discussed.

KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

“…One patient had ''transient pubertal seizures'' [Brancati et al, 2004]. In four adults with KBG syndrome, who had a history of seizures, three were reported to be seizure-free [Parloir et al, 1977;Soekarman et al, 1994;Maegawa et al, 2004]. Grand mal seizures were described in three cases [Soekarman et al, 1994;Brancati et al, 2004; Patient 2 in this report] and absence seizures were noted in the current cases.…”

“…Forty-three of the 46 cases included for consideration fulfill these more specific criteria; 40 possessed 5 or more of the 8 recommended criteria. The three cases which did not meet criteria offered only brief descriptions [Herrmann et al, 1975;Parloir et al, 1977;Brancati et al, 2004]. Each of these individuals met only two or three of the eight major diagnostic criteria.…”

“…A more detailed description of the extent of developmental delay and IQ scores, the presence of behavioral anomalies, as well as EEG, and imaging studies are therefore encouraged in suspected cases of KBG syndrome Several relatives of affected individuals were described as having some signs of KBG syndrome without a diagnosis. Such findings included macrodontia, hypodontia, minor craniofacial anomalies, cutaneous toe syndactyly, hearing impairment, learning disability or seizure disorder, and short stature [Herrmann et al, 1975;Parloir et al, 1977;Fryns and Haspeslagh, 1984;Devriendt et al, 1998;Brancati et al, 2004]. In the original report of Herrmann et al [1975], KBG syndrome was transmitted in an autosomal dominant pattern from father to son in Family G. Since then, another case of fatherto-son transmission [Tekin et al, 2004] has been documented but there is a strong male-to-female predominance among affected individuals [Brancati et al, 2004].…”

“…Seizures were noted in 13 cases (28.3%) [Parloir et al, 1977;Tollaro et al, 1984;Soekarman et al, 1994;Riviera-Vega et al, 1996;Brancati et al, 2004;Maegawa et al, 2004;Tekin et al, 2004;current cases]. Seizures began before age 20 months in at least three patients, and in two of these, the seizures resolved in early childhood [Zollino et al, 1994;Riviera-Vega et al, 1996].…”

“…Forty-eight case reports from 15 papers were identified: Herrmann et al [1975] (7 cases); Parloir et al [1977] and Soekarman et al [1994] (the same 7 cases); Novembri et al [1983] and Tollaro et al [1984] (the same 1 case); Fryns and Haspeslagh [1984] (3 cases); Zollino et al [1994] (6 cases); Riviera-Vega et al [1996] (1 case); Devriendt et al [1998] (2 cases); Smithson et al [2000] (2 cases); Mathieu et al [2000] (1 case); Dowling et al [2001] (1 case); Tekin et al [2004] (3 cases); Brancati et al [2004] (10 cases); and Maegawa et al [2004] (4 cases). Two articles that did not include specific case reports were also reviewed [Iwasaki, 2001;D'Avanzo et al, 2002].…”