Linked Life Data

15264289

Source:http://linkedlifedata.com/resource/pubmed/id/15264289

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-7-20
pubmed:abstractText
Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum. In addition, the boy had a high arched palate, a cardiac malformation, and at the X-rays an absence of fusion of the posterior hemi-arches of C7 and a fusion between L5 and S1 with a sagittal-cleft vertebral body of L5, while his sister had a cleft lip/palate and at the X-rays an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. Other laboratory and radiological investigations were normal. Sequencing of PTPN11 exons 2, 3, 4, 7, 8, 12, and 13 did not reveal any variations. Two other sibs presented almost the same dysmorphic features; one girl died at age 6(1/4) years after an acute episode of renal insufficiency, and one boy died at 40 days of age. Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
128A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
414-7
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.
pubmed:affiliation
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't