PMID- 12558119
OWN - NLM
STAT- MEDLINE
DCOM- 20030425
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 13
IP  - 4
DP  - 2002
TI  - Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.
PG  - 465-73
AB  - Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, 
      neurodegenerative disease with onset in the first or second year of life. It has 
      been reported that INAD shows numerous phenotype characteristics including 
      problems associated with vision, hearing and physical coordination. It has 
      however been very rare to see facial dysmorphism in these children. The study 
      analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal 
      dystrophy affected at birth. At infancy, the children were examined in the 
      Cerrahpasa Medical Faculty Genetic Research Center, Istanbul. They had typical 
      INAD features such as the lack of head control, vision, speech, sitting, and 
      walking which are also seen in children with other congenital abnormalities. 
      These children showed remarkable dysmorphism in the face which included prominent 
      forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and 
      low-settled ears. The presence of these facial features makes the patients appear 
      unique and diagnosis more accurate. While these features are commonly seen 
      diagnosis may be difficult at its onset. Until now this appearence has not been 
      reported in INAD patients. In conclusion, in the first few months of life without 
      any clinical or neurological signs, the physician should also consider diagnosing 
      the disease of the infant as INAD.
FAU - Seven, M
AU  - Seven M
AD  - Istanbul Universitesi Cerrahpasa Tip Fakultesi Genetik ve Teratoloji Uygulama ve 
      Arastirma Merkezi, Cerrahpasa, Istanbul, Turkiye. mehseven@istanbul.edu.tr
FAU - Ozkilic, A
AU  - Ozkilic A
FAU - Yuksel, A
AU  - Yuksel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - *Facies
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - Microscopy, Electron
MH  - Neuroaxonal Dystrophies/*pathology
MH  - *Siblings
EDAT- 2003/02/01 04:00
MHDA- 2003/04/26 05:00
CRDT- 2003/02/01 04:00
PHST- 2003/02/01 04:00 [pubmed]
PHST- 2003/04/26 05:00 [medline]
PHST- 2003/02/01 04:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2002;13(4):465-73.