Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families / Arne OHLSSON in Developmental Medicine & Child Neurology, 22-1 (February 1980)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 22-1 (February 1980) . - p.72-84 Titre : Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families Type de document : Texte imprimé et/ou numérique Auteurs : Arne OHLSSON, Auteur ; Gordon D. STARK, Auteur ; Nadia SAKATI, Auteur Année de publication : 1980 Article en page(s) : p.72-84 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Four children are described from three Saudi Arabian families suffering from osteopetrosis, distal renal tubular acidosis and cerebral calcification associated clinically with mental retardation, stunted growth, abnormal teeth and a similar facial appearance. The syndrome is inherited as an autosomal recessive. The growth retardation is attributed to renal tubular acidosis but no metabolic link is evident between its other major features, and the fundamental defect is unknown. The disorder is radiologically indistinguishable from the classical recessive (malignant) and dominant (benign) forms of osteopetrosis but its other characteristics establish it as a separate disease entity. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504 [article] Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families [Texte imprimé et/ou numérique] / Arne OHLSSON, Auteur ; Gordon D. STARK, Auteur ; Nadia SAKATI, Auteur . - 1980 . - p.72-84. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 22-1 (February 1980) . - p.72-84 Index. décimale : PER Périodiques Résumé : Four children are described from three Saudi Arabian families suffering from osteopetrosis, distal renal tubular acidosis and cerebral calcification associated clinically with mental retardation, stunted growth, abnormal teeth and a similar facial appearance. The syndrome is inherited as an autosomal recessive. The growth retardation is attributed to renal tubular acidosis but no metabolic link is evident between its other major features, and the fundamental defect is unknown. The disorder is radiologically indistinguishable from the classical recessive (malignant) and dominant (benign) forms of osteopetrosis but its other characteristics establish it as a separate disease entity. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=504

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