Intrauterine growth retardation

Abstract

Two cases of severe intrauterine growth retardation, a boy and a girl studied for 7 and 10 years respectively, are reported. Both patients showed peculiar cranio-facial abnormalities as observed in the so-called Seckel's syndrome, an appearance of premature aging, peripheral GH resistance which was probably due to deficiency in Somatomedin A production, sella areas and volumes consistently at the upper limits of normal when related to the patients' height, and dysharmonic skeletal maturation ivory cone-shaped epiphyses of the tubular bones of the hands.

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

“…Majewski et al [1982b] also described the characteristic facial features and the progressive bony dysplasia. Poznanski et al [1983] clarified the radiological changes of two affected individuals who had been reported previously by Pasquino and Iannaccone [1978] and again by Boscherini et al [1981]. 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.…”

“…Similarly, non-English publications of Anoussakis et al [1974] and Pasquino and Iannaccone [1978] described individuals with very similar features of severe IUGR and severe postnatal growth restriction. Boscherini et al [1981] reported the Italian individual again, in English this time. Majewski et al [1982a] and other authors reviewed reported cases of Seckel syndrome and distinguished three specific types of primordial osteodysplastic dwarfism (e.g., primordial ¼ the features were present during early in utero development, osteodysplasia ¼ abnormalities in bony growth; and dwarfism ¼ disproportionate short stature) and distinguished them from Seckel ''bird-headed'' dwarfism [Majewski andGoecke, 1982, 1998;Majewski et al, 1982a,b;Majewski, 1992] in which more severe microcephaly was present at birth, and the IUGR was less severe, as was postnatal growth deficiency.…”

“…Review of the literature produced 27 cases [Brizard et al, 1973;Anoussakis et al, 1974;Pasquino and Iannaccone, 1978; reported again by Boscherini et al, 1981;Majewski et al, 1982a;Toudic et al, 1983;and by Poznanski et al, 1983;Verloes et al, 1987;Willems et al, 1987;Herman et al, 1991;Shebib et al, 1991; reported again by Théau and Maroteaux, 1993;Al Gazali et al, 1995, Masuno et al, 1995Spranger et al, 1996;D'Angelo et al, 1998;Halder et al, 1998;Majewski and Goecke, 1998;Tekin et al, 2000;Fukuzawa et al, 2002;Kantaputra, 2002;Nishimura et al, 2003] with sufficient clinical and natural history information to be sure of the diagnosis and to contribute to defining the frequency of various features. The authors of the articles were recontacted to update clinical information and to provide additional comments on features not mentioned in the original reports.…”

“…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.…”

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

“…In this review, leukocytosis and/or thrombocytosis was not mentioned as a finding . Our search of the literature showed that no study provided the leukocyte or platelet counts in patients with MOPD II , except for the above mentioned two case reports and Case 6 in the present study, which had been previously published in relation to moyamoya and recurrent strokes .…”