A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
Identifieur interne : 003811 ( Ncbi/Merge ); précédent : 003810; suivant : 003812A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
Auteurs : S A Sanjad ; N A Sakati ; Y K Abu-Osba ; R. Kaddoura ; R D MilnerSource :
- Archives of Disease in Childhood [ 0003-9888 ] ; 1991.
Abstract
Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
Url:
PubMed: 2001103
PubMed Central: 1792808
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Arch Dis Child</journal-id><journal-title>Archives of Disease in Childhood</journal-title><issn pub-type="ppub">0003-9888</issn><issn pub-type="epub">1468-2044</issn></journal-meta><article-meta><article-id pub-id-type="pmid">2001103</article-id><article-id pub-id-type="pmc">1792808</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sanjad</surname><given-names>S A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sakati</surname><given-names>N A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Abu-Osba</surname><given-names>Y K</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kaddoura</surname><given-names>R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Milner</surname><given-names>R D</given-names></name></contrib></contrib-group><aff>Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.</aff><pub-date pub-type="ppub"><month>2</month><year>1991</year></pub-date><volume>66</volume><issue>2</issue><fpage>193</fpage><lpage>196</lpage><abstract><p>Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>p195-a</label><graphic xlink:href="archdisch00653-0031-a" xlink:role="195"></graphic></fig></sec></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Abu Osba, Y K" sort="Abu Osba, Y K" uniqKey="Abu Osba Y" first="Y K" last="Abu-Osba">Y K Abu-Osba</name><name sortKey="Kaddoura, R" sort="Kaddoura, R" uniqKey="Kaddoura R" first="R" last="Kaddoura">R. Kaddoura</name><name sortKey="Milner, R D" sort="Milner, R D" uniqKey="Milner R" first="R D" last="Milner">R D Milner</name><name sortKey="Sakati, N A" sort="Sakati, N A" uniqKey="Sakati N" first="N A" last="Sakati">N A Sakati</name><name sortKey="Sanjad, S A" sort="Sanjad, S A" uniqKey="Sanjad S" first="S A" last="Sanjad">S A Sanjad</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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