PMID- 12210352
OWN - NLM
STAT- MEDLINE
DCOM- 20030131
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 111
IP  - 2
DP  - 2002 Aug 1
TI  - Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome 
      aberrations.
PG  - 205-9
AB  - Cantu syndrome consists of hypertrichosis, osteochondrodysplasia, and 
      cardiomegaly, and has been reported in 18 patients to date. We report an infant 
      with Cantu syndrome. In addition to typical findings, he had relatively mild 
      radiological and cardiological manifestations. Previously undescribed findings 
      included pyloric stenosis and elevated alkaline phosphatase levels. Brain scans 
      showed bilateral calcification of the Arteriae thalamostriatae and widening of 
      the outer liquor spaces and lateral ventricles. Because the propositus is the 
      youngest patient reported to date, our findings refine the clinical spectrum of 
      Cantu syndrome in neonates and young infants. The etiology and mode of 
      inheritance of Cantu syndrome are unknown. Most cases are sporadic. 
      Microdeletions have been discussed as a possible cause of Cantu syndrome. 
      Recently, several syndromes with multiple congenital anomalies and mental 
      retardation have been shown to be caused by subtelomeric chromosome aberrations. 
      We excluded the presence of a cryptic subtelomeric chromosome anomaly in our 
      patient by fluorescence in situ hybridization (FISH) screening with 
      locus-specific probes.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Engels, Hartmut
AU  - Engels H
AD  - Institute of Human Genetics, University of Bonn, Bonn, Germany.
FAU - Bosse, Kristin
AU  - Bosse K
FAU - Ehrbrecht, Antje
AU  - Ehrbrecht A
FAU - Zahn, Susanne
AU  - Zahn S
FAU - Hoischen, Alexander
AU  - Hoischen A
FAU - Propping, Peter
AU  - Propping P
FAU - Bindl, Lutz
AU  - Bindl L
FAU - Reutter, Heiko
AU  - Reutter H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adult
MH  - Cardiomegaly/diagnosis/*genetics
MH  - *Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - Hypertrichosis/diagnosis/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability
MH  - Karyotyping
MH  - Male
MH  - Osteochondrodysplasias/diagnosis/*genetics
MH  - Pregnancy
MH  - Pregnancy Complications
MH  - Syndrome
MH  - Telomere
RF  - 20
EDAT- 2002/09/05 10:00
MHDA- 2003/02/01 04:00
CRDT- 2002/09/05 10:00
PHST- 2002/09/05 10:00 [pubmed]
PHST- 2003/02/01 04:00 [medline]
PHST- 2002/09/05 10:00 [entrez]
AID - 10.1002/ajmg.10560 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Aug 1;111(2):205-9. doi: 10.1002/ajmg.10560.