Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro‐osseous morphology

Abstract

Osteocraniostenosis is a severe skeletal dysplasia characterized by a hypomineralized skull that has been previously described as kleeblattschädel (cloverleaf skull) and overtubulated long bones. Dysmorphic facial features include a short nose, short philtrum, and a small, inverted V-shaped mouth. Splenic a/hypoplasia is a constant finding. We report four infants (two unrelated and two siblings) with osteocraniostenosis and describe the clinical, radiographic and chondro-osseous morphology findings. The two siblings lack the moderate long-bone shortening that is typically seen. The skull configuration is likely caused by severely hypoplastic cranial bones (parietal) rather than true craniosynostosis, making the term "osteocraniostenosis" misleading. Histological examination of bone in all cases showed an abnormal growth plate with short irregular columns. The resting cartilage showed pleomorphic chondrocytes with increased cellularity and unique pseudocolumn formation. There are some radiographic and chondro-osseous morphologic similarities between osteocraniostenosis and severe Hallermann-Streiff syndrome (HSS), suggesting the two disorders may be pathogenetically related.

Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: Clinico‐pathologic report and differential diagnosis with review of cranio‐gracile bone syndromes, “osteocraniostenosis” and Kleeblattschädel

“…Peres et al 2004 recorded a patient with osteocraniostenosis among four patients reported with splenopancreatic fusion. And most recently Elliott et al 2006 report four further patients, one, Case 2, being the subject also of the present report, bringing the total of reported patients to 19, if one accepts the four discussed by Verloes 1997.…”

“…This report presents the findings in a newborn male with agenesis of the parietal bones, gracile long bones, and hypoplasia of the spleen, and reviews cranial‐gracile bone syndromes, the concept of “osteocraniostenosis,” and the topic of Kleeblattschädel, cloverleaf skull. This patient is Case 2 in the recent report by Elliott et al 2006.…”

Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome

“…Classically the long bones of several syndromic associations such as HSS, osteogenesis imperfecta, Marfan syndrome, Cockayne syndrome, Kenny-Caffey syndrome, and osteo-craniostenosis syndrome are principally characterized of being thin and gracile [6,7]. The cardinal bone changes in our current report were derived from conventional radiographic analysis.…”

Slender bone dysplasia (gracile)

“…Several characterizations of osteocraniostenosis are craniofacial abnormalities (temporal bulge, small nose, short philtrum, small mouth, and micrognathia), short fingers with tiny nails, pulmonary and splenic hypoplasia, and hydrops. Radiological abnormalities include hypomineralization of the calvarium with resulting cloverleaf skull (acrocephalic), slender tubular bones, thin ribs and clavicles, and metaphyseal flaring of the tubular bones [Kozlowski and Kan, 1988;Verloes et al, 1994;Costa et al, 1998;Kozlowski et al, 2002;Elliot et al, 2006]. Osteocraniostenosis has recently been reviewed by Elliot et al [2006].…”

“…Radiological abnormalities include hypomineralization of the calvarium with resulting cloverleaf skull (acrocephalic), slender tubular bones, thin ribs and clavicles, and metaphyseal flaring of the tubular bones [Kozlowski and Kan, 1988;Verloes et al, 1994;Costa et al, 1998;Kozlowski et al, 2002;Elliot et al, 2006]. Osteocraniostenosis has recently been reviewed by Elliot et al [2006]. The clinical as well as radiologic findings in the case presented here focuses on the remainder of the SBD (G).…”