PMID- 12416645
OWN - NLM
STAT- MEDLINE
DCOM- 20030212
LR  - 20111117
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 13
IP  - 3
DP  - 2002
TI  - Costello syndrome in two siblings and minor manifestations in their mother. 
      Further evidence for autosomal dominant inheritance?
PG  - 353-6
AB  - We report on two siblings: the index patient, a 9 months old boy and his 2.5 
      years old sister, both presenting the main clinical signs and symptoms of 
      Costello syndrome (CS): severe mental and motor retardation, feeding 
      difficulties, failure to thrive in the first months of life, coarse facial 
      appearance, skin hyperlaxity and skeletal deformities. Their mother presented 
      with mild to moderate mental retardation, short stature, facial fullness and 
      wart-like lesions on her face. The present observation confirms previous data on 
      the apparent autosomal dominant pattern of inheritance in Costello syndrome with 
      variable expression.
FAU - Ioan, D M
AU  - Ioan DM
AD  - Department of Medical Genetics, Institute of Endocrinology, Bucharest, Roumania.
FAU - Fryns, J P
AU  - Fryns JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Female
MH  - *Genes, Dominant
MH  - Humans
MH  - Infant
MH  - Intellectual Disability/genetics/pathology
MH  - Male
MH  - *Mothers
MH  - *Siblings
MH  - Syndrome
EDAT- 2002/11/06 04:00
MHDA- 2003/02/14 04:00
CRDT- 2002/11/06 04:00
PHST- 2002/11/06 04:00 [pubmed]
PHST- 2003/02/14 04:00 [medline]
PHST- 2002/11/06 04:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2002;13(3):353-6.