PMID- 9028454
OWN - NLM
STAT- MEDLINE
DCOM- 19970425
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 68
IP  - 2
DP  - 1997 Jan 20
TI  - Limb anomalies in DiGeorge and CHARGE syndromes.
PG  - 179-81
AB  - Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe 
      limb anomalies in two children, one with DiGeorge and the other with CHARGE 
      syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent 
      thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 
      was detected by fluorescence in situ hybridization (FISH). The second patient, 
      with CHARGE syndrome, had asymmetric findings that included right fifth finger 
      clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. 
      The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb 
      anomalies.
FAU - Prasad, C
AU  - Prasad C
AD  - Division of Genetics, Children's Hospital, Harvard Medical School, Boston, 
      Massachusetts 02115, USA.
FAU - Quackenbush, E J
AU  - Quackenbush EJ
FAU - Whiteman, D
AU  - Whiteman D
FAU - Korf, B
AU  - Korf B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis
MH  - Choanal Atresia/complications/diagnosis
MH  - Chromosomes, Human, Pair 22
MH  - Clubfoot/complications/diagnosis
MH  - Coloboma/complications/diagnosis
MH  - DiGeorge Syndrome/*complications/*diagnosis/genetics
MH  - Ear/abnormalities
MH  - Ectromelia/complications/diagnosis
MH  - Female
MH  - Genitalia/abnormalities
MH  - Growth Disorders/complications/diagnosis
MH  - Heart Defects, Congenital/complications/diagnosis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Limb Deformities, Congenital
MH  - Male
MH  - Sequence Deletion
MH  - Syndactyly
MH  - Thumb/abnormalities
EDAT- 1997/01/20 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/01/20 00:00
PHST- 1997/01/20 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/01/20 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970120)68:2<179::AID-AJMG11>3.0.CO;2-R [pii]
AID - 10.1002/(sici)1096-8628(19970120)68:2<179::aid-ajmg11>3.0.co;2-r [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Jan 20;68(2):179-81. doi: 
      10.1002/(sici)1096-8628(19970120)68:2<179::aid-ajmg11>3.0.co;2-r.