Linked Life Data

9788040

Source:http://linkedlifedata.com/resource/pubmed/id/9788040

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1998-11-30
pubmed:abstractText
A 36 year-old woman with a history of asthenia and palpitations was admitted to the Cardiac Surgery Department of Tor Vergata University, in Rome. Physical examination revealed short stature, depressed nasal bridge, hypertelorism, hypoacusia, pectus excavatum, diffuse brachydactyly, clinodactyly of the second digit of both the right hand and left foot. A 3/6 holosystolic increasing-decreasing murmur on the pulmonary focus was present at cardiac auscultation. Echocardiogram and cardiac catheterization revealed an ostium secundum atrial septal defect. X-ray examination of the hands exhibited shortening of the third, fourth and fifth metacarpals, shortening of the distal phalanges, shortening of the proximal and middle phalanges of the fifth digits and cone epiphysis of the middle phalanx of the second digits. Radiograph of the feet revealed shortening of the third and fourth and metatarsals on the left side, bilateral shortening of the first metatarsals and of the distal phalanges, cone epiphyses at the proximal base of the first toes. Additional radiographic findings included pectus excavatum and narrowing of the spinal canal. Laboratory investigations disclosed increased plasma levels of parathormone and hypocalcemia. The patient underwent primary closure of the atrial septal defect on cardiopulmonary bypass. Radiographic findings supported the diagnosis of Albright's hereditary osteodystrophy. This is a skeletal malformation involving type I-A pseudohypoparathyroidism and so-called pseudo-pseudohypoparathyroidism. Coexistence of hypocalcemia and high levels of parathormone indicated that our patient was affected with type I-A. About one-fourth of congenital heart diseases are associated with extracardiac anomalies. Although skeletal malformations appear to be the most frequent, the association of a congenital heart defect with Albright's hereditary osteodystrophy has never been described before.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0046-5968
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1012-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case.
pubmed:affiliation
Department of Cardiovascular Surgery, Tor Vergata University of Rome.
pubmed:publicationType
Journal Article, Case Reports