PMID- 10793826
OWN - NLM
STAT- MEDLINE
DCOM- 20000524
LR  - 20161124
IS  - 1020-3397 (Print)
IS  - 1020-3397 (Linking)
VI  - 5
IP  - 3
DP  - 1999 May
TI  - A diagnostic clinical genetic study of craniofacial dysmorphism.
PG  - 470-7
AB  - A diagnostic evaluation of craniofacial anomalies, either isolated or as part of 
      a genetic syndrome was conducted on 25 patients (8 females, 17 males), age range 
      2 months to 47 years. Complete genetic examination, pedigree analysis, 
      anthropometric measurements and radiological studies were carried out. 
      Cytogenetic studies included fluorescence in situ hybridization (FISH) when 
      indicated. In all, 15 patients had chromosomal abnormalities. Five patients had 
      unbalanced chromosome rearrangements and six had chromosome markers. Three 
      patients were FISH-positive for William syndrome and one was positive for 
      Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed 
      as craniosynostosis syndromes. We conclude that minor features are useful for 
      making a diagnosis of congenital anomalies.
FAU - Farag, H M
AU  - Farag HM
AD  - Human Genetics Department, Alexandria University, Egypt.
FAU - Kotb, S M
AU  - Kotb SM
FAU - Sweify, G A
AU  - Sweify GA
FAU - Fawzy, R K
AU  - Fawzy RK
FAU - Ismail, S R
AU  - Ismail SR
LA  - eng
PT  - Journal Article
PL  - Egypt
TA  - East Mediterr Health J
JT  - Eastern Mediterranean health journal = La revue de sante de la Mediterranee 
      orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit
JID - 9608387
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Anthropometry
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations/*diagnosis/*genetics/prevention & control
MH  - Chromosome Disorders
MH  - Congenital Abnormalities/diagnosis/genetics
MH  - Egypt
MH  - Facial Bones/*abnormalities/diagnostic imaging
MH  - Female
MH  - Genetic Counseling
MH  - Genetic Testing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Radiography
MH  - Skull/*abnormalities/diagnostic imaging
EDAT- 2000/05/04 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/05/04 09:00
PHST- 2000/05/04 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/05/04 09:00 [entrez]
PST - ppublish
SO  - East Mediterr Health J. 1999 May;5(3):470-7.