2007
DOI: 10.1097/mcd.0b013e3280739753
|View full text |Cite
|
Sign up to set email alerts
|

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

Abstract: In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening for mut… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

0
1
0

Year Published

2009
2009
2024
2024

Publication Types

Select...
4
1

Relationship

0
5

Authors

Journals

citations
Cited by 5 publications
(1 citation statement)
references
References 10 publications
0
1
0
Order By: Relevance
“…Due to the large number of symptoms, the SH are classified according to the mutated protein (table 2). Among the SH, there are SH associated with glycosylation disorders or dystroglycanopathies (Walker Warburg syndrome, muscle-eye-brain disease, among others) 1,16 ; with planar cell polarity and neural tube disorders (spina bifida, anencephaly, Arnold Chiari Malformation). SH associated with RA Sopathies (Noonan syndrome, neurofibromatosis, Costello syndrome and cardio-facio-cutaneous syndrome), among others.…”
Section: Discussionmentioning
confidence: 99%
“…Due to the large number of symptoms, the SH are classified according to the mutated protein (table 2). Among the SH, there are SH associated with glycosylation disorders or dystroglycanopathies (Walker Warburg syndrome, muscle-eye-brain disease, among others) 1,16 ; with planar cell polarity and neural tube disorders (spina bifida, anencephaly, Arnold Chiari Malformation). SH associated with RA Sopathies (Noonan syndrome, neurofibromatosis, Costello syndrome and cardio-facio-cutaneous syndrome), among others.…”
Section: Discussionmentioning
confidence: 99%