Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.
Am J Med Genet A
; 136A(4): 390-4, 2005 Aug 01.
Article
in En
| MEDLINE
| ID: mdl-16007608
ABSTRACT
We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia. Genomic DNA was only available for sequencing analysis in patient 2 and the mutation, c.3386_3387delTT was detected in exon 14 of the GL13 gene. It is also possible that the findings in patient 1 represent the phenotypic expression of a novel GLI3 mutation. This report further expands the PHS phenotype and raises the possibility of specific GLI3 mutations resulting in more severe skeletal features. It also suggests that PHS should be included in the differential diagnosis of antenatally ascertained acromesomelic limb shortening and bowing with fibular hypoplasia particularly in the presence of polysyndactyly.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transcription Factors
/
Abnormalities, Multiple
/
Limb Deformities, Congenital
/
DNA-Binding Proteins
/
Fibula
/
Mutation
/
Nerve Tissue Proteins
Limits:
Child, preschool
/
Humans
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2005
Document type:
Article
Affiliation country:
Australia