{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:12:06Z","timestamp":1792167126483,"version":"4.4.0"},"reference-count":13,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:p>The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1\/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation.<\/jats:p>","DOI":"10.1136\/jmg.28.11.795","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"795-800","source":"Crossref","is-referenced-by-count":48,"title":["Microcephalic osteodysplastic primordial dwarfism type I\/III in sibs."],"prefix":"10.1136","volume":"28","author":[{"given":"P","family":"Meinecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Passarge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/ajmg.1320120103","article-title":"Studies of microcephalic primordial dwarfism. 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Le nanisme congenital a tete d'oiseau (type Virchow-Seckel)","volume":"29","author":"Anoussakis, C.; Liakakos, D.; Zervos, N.; Karpathios, T.","year":"1974","unstructured":"Anoussakis C, Liakakos D, Zervos N, Karpathios T. Les nanismes congenitaux avec dysmorphie. II. Le nanisme congenital a tete d'oiseau (type Virchow-Seckel). Pidiatrie 1974;29:261-7.","journal-title":"Pidiatrie"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/ajmg.1320120104","article-title":"Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism","volume":"12","author":"Majewski, F.; Ranke, M.; Schinzel, A.","year":"1982","unstructured":"Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism. 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Osteodysplastic dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am J Med Genet 1985;21:569-74.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/ajmg.1320330216","article-title":"Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I","volume":"33","author":"Haan, E.A.; Furness, M.E.; Knowles, S.","year":"1989","unstructured":"Haan EA, Furness ME, Knowles S, et al. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet 1989;33:224-7.","journal-title":"and III. 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Radiology 1967;89:275-81.","journal-title":"Radiology"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ajmg.1320120105","article-title":"Studies of microcephalic primordial dwarfism. III. An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - osteodysplastic primordial dwarfism type III","volume":"12","author":"Majewski, F.; Stoeckenius, M.; Kemperdick, H.","year":"1982","unstructured":"Majewski F, Stoeckenius M, Kemperdick H. Studies of microcephalic primordial dwarfism. III. An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - osteodysplastic primordial dwarfism type III. Am J Med Genet 1982;12:37-42.","journal-title":"Am J Med Genet"},{"key":"ref_11","first-page":"187","article-title":"Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome)","volume":"19","author":"Thomas, P.S.; Nevin, N.C.","year":"1976","unstructured":"Thomas PS, Nevin NC. 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