Linked Life Data

3177454

Source:http://linkedlifedata.com/resource/pubmed/id/3177454

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1988-11-8
pubmed:abstractText
We report on a new X-linked recessive syndrome in 2 unrelated families, consisting of pre- and postnatal growth excess, typical facial phenotype allowing diagnosis at birth, and usually normal physical and intellectual development. The minor anomalies seen at birth include a "coarse" face with wide nasal bridge, short nose with upturned nasal tip, wide open mouth, thick lips, midline depression of the lower lip, enlarged tongue, highly arched palate, large maxilla and jaw, and a short broad neck. Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad short hands and feet, and in some cases preauricular dimples, abnormal ears, postaxial hexadactyly, hypoplastic index finger nails, and abnormal dermatoglyphics. Early postnatal death is frequent and pathogenetically unexplained. During infancy and childhood the leading manifestations are the overgrowth (greater than 97th centile), striking facial appearance, hypodontia and/or malposition of teeth, genua valga, hypoplastic calf muscles, and clumsiness. Adolescent and adult patients have well proportioned "gigantism" of athletic build (192-210 cm), large "coarse" face, and a deep voice. General intellectual and motor development are either normal or mildly delayed. Results of routine laboratory tests are normal, as are growth hormone and IGF I levels and chromosomes. Pathogenesis remains unknown. Heterozygotes may show some of the characteristic facial changes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
275-85
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.
pubmed:affiliation
Institut für Medizinische Biologie und Humangenetik, Universität Graz, Austria.
pubmed:publicationType
Journal Article, Case Reports