Linked Life Data

9714437

Source:http://linkedlifedata.com/resource/pubmed/id/9714437

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-10-20
pubmed:abstractText
In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
24
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
345-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
A family with dominant oculoauriculovertebral spectrum.
pubmed:affiliation
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
pubmed:publicationType
Journal Article, Case Reports