Two asymptomatic Turkish sibs are presented, a 4-year-old boy and his 7-year-old sister, with pulmonary alveolar microlithiasis (PAM) confirmed by transbronchial lung biopsy and bronchoalveolar lavage. Chest radiographs and high resolution CT demonstrated widespread intra-alveolar calcifications in both lungs. The lesions were sharply defined and less than 1 mm in diameter. CT documented a high concentration of microliths along the bronchovascular bundles, the intralobular fissure and the (sub)pleural lung parenchyma. The combination of bronchoalveolar lavage and roentgenographic appearance in high resolution CT are characteristic and pathognomonic, and can confirm the diagnosis. The more severe changes in the elder sib and the radiographic controls suggest that the pulmonary disease may be progressive in our patients. The described family of consanguineous, unaffected parents with two affected and one healthy child confirmed the autosomal recessive inheritance of PAM (McKusick 265100). In addition, the affected girl had autosomal recessive Waardenburg-anophthalmia syndrome (McKusick 206920), raising the question of whether this is a chance occurrence or possibly a contiguous gene syndrome.
Radiographic investigation of 3 Turkish sibs presenting with bowed legs disclosed physiological tibial bowing in the 7-month-old girl. Stage I Blount disease in the 26 month-old boy and Stage II Blount disease in the 45 month-old girl. The reported cases provide evidence for autosomal recessive inheritance. This observation points to genetic heterogenity, i.e. the existence of 2 genetically different, but radiologically indistinguishable disorders.
Mit 11 AbbildungenDen Anatomen des vorigen Jahrhunderts war die basilare Impression als besondere Form einer abgeflachten hinteren Schdelbasis gut bekaimt. Dagegen hat man sich im klinischen Schrifttum mit den Auswirkungen dieser Deformitt und den begleitenden Anomalien am zentralen Nervensystem erst in den letzten zwanzig Jahren näher befaßt.Der nur röntgenologisch mögliche Nachweis des Ausmaßes einer basilaren Impression stößt oft auf größere Schwierigkeiten. Der Wert der hierfür angegebenen verschiedenen Bestimmungs. maße wurde jüngst von Tänzer wie von Spillane, Pallis und Jones kritisch besprochen. Danach besitzen die von Boogaard, Chamberlain, McGregor, Fischgold und Metzger und Bull angegebenen Linien bzw. Winkel eine sehr unterschiedliche Bedeutung, 60 Mit 11 Abbildungen Den Anatomen des vorigen Jahrhunderts war die basilare Impression als besondere Form einer abgeflachten hinteren Schädelbasis gut bekannt. Dagegen hat man sich im klinischen Schrifttum mit den Auswirkungen dieser Deformität und den begleitenden Anomalien am zentralen Nervensystem erst in den letzten zwanzig Jahren näher befaßt. Der nur röntgenologisch mögliche Nachweis des Ausmaßes einer basilaren Impression stößt oft auf größere Schwierigkeiten. Der Wert der hierfür angegebenen verschiedenen Bestimmungsmaße wurde jüngst von Tänzer wie von Spillane, Pallis und Jones kritisch besprochen. Danach besitzen die von Boogaard, Chamberlain, McGregor, Fischgold und Metzger und Bull angegebenen Linien bzw. Winkel eine sehr unterschiedliche Bedeutung, 60 H. Schmidt und E. Fischer Röfo 88, 1 Heruntergeladen von: NYU. Urheberrechtlich geschützt. Röfo 88, 1 Ober zwei verschiedene Formen der primären basilaren Impression 61 Abb.1 Abb.2 Abb. 1. Sagittales Tomogramm in der Höhe der Pars lateralis ossis occipitalis bei seitlicher basilarer Impression. Abb. 2. Sagittales Tomogramm derselben Gegend bei normalen Verhältnissen zum Verg'eich.
Connections between the base and the vault of the skull in disturbed development have been known since the time of VIRCHOW (1857). This author stated that there is 'no deformity of the vault without deformity of the base'. Later investigations, independent of VIRCHOW'S observations, and made by anatomists, have made these connections more evident.During embryonal development the ossification of the skull begins early in the third month. The first centers appear in the base. The vault is stretched over the brain. When the pressure of the growing brain has reached a certain degree the ossification of the vault begins. The first ossification centers appear at the points of highest growth pressure.The base as the foundation of the brain also forms the transverse buttresses for the vault of the skull. The main transverse buttresses are the pyramids and the sphenoid wings; the sagittal buttress is the falx cerebri. These buttresses bear the growth pressure of the brain; between them, however, must be the highest scale of pressure. Therefore the first five centers of ossification arise ( Fig. 1): 1. between the falx and the continuation of the sphenoid wings: both the frontal points,
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