Osteodysplastic variant of primordial dwarfism

Abstract

A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

“…These age-related phenomena are similar to those of Seckel syndrome [Poznanski et al, 1983]. The reported patients share many features with an MOPD patient who was reported to have long and slender clavicles, ivory epiphyses, cone-shaped epiphyses, dislocated hip, with abnormal dental development [Shebib et al, 1991]. The panoramic radiograph of that particular patient and ours showed similar features consisting of microdontia, rootless molars, and severely hypoplastic alveolar process [Shebib et al, 1991].…”

“…The reported patients share many features with an MOPD patient who was reported to have long and slender clavicles, ivory epiphyses, cone-shaped epiphyses, dislocated hip, with abnormal dental development [Shebib et al, 1991]. The panoramic radiograph of that particular patient and ours showed similar features consisting of microdontia, rootless molars, and severely hypoplastic alveolar process [Shebib et al, 1991]. Disproportionate short stature, synostosis of sagittal suture, short neck, short and bowed forearms, flared distal metaphyses of the femora, hypoplastic pelvis, and delayed intellectual development distinguish that patient from the current patients.…”

“…Patients affected with MOPD can be easily distinguished from those with Seckel syndrome by being disproportionately short and having distinct radiological features [Majewski et al, 1982a[Majewski et al, , 1982bPoznanski et al, 1983;Majewski and Goecke, 1998]. Primordial short stature with dental anomalies has been described [Seckel, 1960;Majewski and Goecke, 1982;Shebib et al, 1991;Majewski, 1992;Lin et al, 1995]. However, none, especially anyone with proportionate primordial short stature, has been reported with severe microdontia, opalescent teeth, and rootless molars.…”

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

“…Willems et al [1987] reported a family with consanguinity and suggested that there might be an autosomal recessive basis for the disorder and Verloes et al [1987] reported another consanguineous family with two affected siblings. Herman et al [1991] reported an additional female and Shebib et al [1991] reported a girl from a consanguineous Saudi Arabian family who had only 11 ribs and had very little response to growth hormone therapy.…”

“…All together at least 26 reports of affected individuals have been published in the medical literature [Brizard et al, 1973;Anoussakis et al, 1974;Pasquino and Iannaccone, 1978;Boscherini et al, 1981;Tsuchiya et al, 1981;Majewski andGoecke, 1982, 1998;Majewski et al, 1982b;Poznanski et al, 1983;Toudic et al, 1983;Verloes et al, 1987;Willems et al, 1987;Herman et al, 1991;Shebib et al, 1991;Sugio et al, 1993;Théau and Maroteaux, 1993;Al Gazali et al, 1995;Masuno et al, 1995;Spranger et al, 1996;D'Angelo et al, 1998;Halder et al, 1998;Tekin et al, 2000;Fukuzawa et al, 2002;Kantaputra, 2002;Seymen et al, 2002;Nishimura et al, 2003], in which 27 affected individuals have sufficient clinical information on natural history to be included in this report. This report describes the natural history of MOPD II based on the 27 published cases and 31 additional unpublished affected individuals.…”