Familial Trigonocephaly Associated With Short Stature and Developmental Delay

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment

“…The pattern of anomalies described in the present patient, although similar to previous patients [1][2][3][4][5], shows a new degree of clinical variability in SMS. Moreover, the current comparative analysis of all nine patients with SMS reveals a noticeable phenotypic variability and some infrequent anomalies (Table 1).…”

“…Other patients have been of sporadic occurrence [4,5]. It must be noted that the present patient, alike to patients 2 and 1 by Say and Meyer [1], and the proband in another family [2] respectively, was born to a relatively old father, thus supporting the assumption of a very infrequent autosomal dominant new mutation.…”

“…Growth disorder in SMS patients usually begins prenatally and remains at least until childhood as seen in the present case. However, it must be noted that the 30-yearold patient described by Say and Meyer (1981) had a height of 162 cm and moderate intellectual disability [1]. In this sense, the periodical follow-up in the present patient may allow a favorable prognosis via proper neurological, psychological, cranial vault, physiotherapeutical, and growth assessments.…”

Trigonocephaly in rabbits with familial interfrontal suture synostosis: The multiple effects of premature single‐suture fusion

“…Significantly early and high intracranial pressures and reduced intracranial volumes have been noted in rabbits from this colony with premature coronal suture synostosis (Singhal et al, 1997;Mooney et al 1998cMooney et al , 1999Fellows-Mayle et al, 2000) and have been associated with secondary brain growth disturbances . Similar reductions in intracranial volume (Posnick et al, 1995;Di Rocco et al, 1996;Mommaerts and Staels, 1996) and elevated intracranial pressure (Renier et al, 1987) have been reported clinically, which may result in ocular problems (Denis et al, 1996), cognitive disabilities, and mental retardation (Anderson et al, 1962;Say and Meyer, 1981;Schaap et al, 1992;Collmann et al, 1996). However, this condition is typically not lethal in humans, probably due in part to species-specific variations in brain growth rates and vectors between rabbits and humans as discussed previously and to early surgical intervention (Anderson, 1981;Dominguez et al, 1981;Marsh and Schwartz, 1983;Dhellemmes et al, 1986;Delashaw et al, 1986;Oi and Matsumoto, 1987;Sadove et al, 1990;Posnick et al, 1994Posnick et al, , 1995Cohen et al, 1994;Eppley and Sadove, 1994;McCarthy et al, 1995;Di Rocco et al, 1996;Collmann et al, 1996;Denis et al, 1996;Mommaerts and Staels, 1996).…”

Trigonocephaly in rabbits with familial interfrontal suture synostosis: The multiple effects of premature single-suture fusion

“…Significantly early and high intracranial pressures and reduced intracranial volumes have been noted in rabbits from this colony with premature coronal suture synostosis (Singhal et al, 1997; Mooney et al 1998c, 1999; Fellows‐Mayle et al, 2000) and have been associated with secondary brain growth disturbances (Cooper et al, 1999). Similar reductions in intracranial volume (Posnick et al, 1995; Di Rocco et al, 1996; Mommaerts and Staels, 1996) and elevated intracranial pressure (Renier et al, 1987) have been reported clinically, which may result in ocular problems (Denis et al, 1996), cognitive disabilities, and mental retardation (Anderson et al, 1962; Say and Meyer, 1981; Schaap et al, 1992; Collmann et al, 1996). However, this condition is typically not lethal in humans, probably due in part to species‐specific variations in brain growth rates and vectors between rabbits and humans as discussed previously and to early surgical intervention (Anderson, 1981; Dominguez et al, 1981; Marsh and Schwartz, 1983; Dhellemmes et al, 1986; Delashaw et al, 1986; Oi and Matsumoto, 1987; Sadove et al, 1990; Posnick et al, 1994, 1995; Cohen et al, 1994; Eppley and Sadove, 1994; McCarthy et al, 1995; Di Rocco et al, 1996; Collmann et al, 1996; Denis et al, 1996; Mommaerts and Staels, 1996).…”