1998
DOI: 10.1136/jmg.35.1.61
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Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.

Abstract: We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type IIIII. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age … Show more

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Cited by 12 publications
(15 citation statements)
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“…Neuropathological data from previously reported patients with MOPD have been scant [3, 10, 15, 22, 24, 29, 32]. The present case of an 11-month-old girl with MOPD I/III provides new details regarding the neuropathology of this devastating condition.…”
Section: Discussionmentioning
confidence: 70%
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“…Neuropathological data from previously reported patients with MOPD have been scant [3, 10, 15, 22, 24, 29, 32]. The present case of an 11-month-old girl with MOPD I/III provides new details regarding the neuropathology of this devastating condition.…”
Section: Discussionmentioning
confidence: 70%
“…Some evidence indicates that an MOPD I/III locus lies on chromosome 2q [18], but to date, the molecular basis of this disorder has been obscure [3, 20]. In contrast, MOPD II has been definitively linked to mutations in the pericentrin ( PCNT ) gene [26, 28, 36].…”
Section: Discussionmentioning
confidence: 99%
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