Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1997-8-15
pubmed:abstractText
We report a 2-month-old infant with Robinow syndrome. Clinical manifestations included short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodactyly, duplication of thumbs, hypoplasia of clitoris, and deformed pronated foot. A cytogenetic study revealed a normal female karyotype. Chest radiography showed rib anomalies, a vertebral anomaly in T8, narrowing of interpedicular distances and flaring with slight thickening of the bone cortex in the bilateral humeral bone. Hand and foot radiography showed generalized shortening include unequal size of metacarpal, metatarsal and phalangeal bones. In our case, sporadic or autosomal recessive inheritance was most likely. The literature is reviewed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0001-6578
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
235-8
pubmed:dateRevised
2008-2-12
pubmed:meshHeading
pubmed:articleTitle
Robinow syndrome: report of one case.
pubmed:affiliation
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
pubmed:publicationType
Journal Article, Case Reports