PMID- 12174971
OWN - NLM
STAT- MEDLINE
DCOM- 20030220
LR  - 20170214
IS  - 0883-0738 (Print)
IS  - 0883-0738 (Linking)
VI  - 17
IP  - 6
DP  - 2002 Jun
TI  - Midline developmental anomalies in Down syndrome.
PG  - 460-2
AB  - Infants with Down syndrome are known to have a high frequency of birth defects, 
      particularly cardiac and gastrointestinal defects. Mental retardation of 
      different degrees is common, but accompanying central nervous system 
      malformations are rare. We report a boy born spontaneously in the 37th 
      postconceptional week with multiple malformations: microcephaly, hypertelorism, 
      blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic 
      palmar and plantar creases. Cardial sonography revealed a ventricular septal 
      defect and mild pulmonary stenosis. Cranial magnetic resonance imaging 
      demonstrated a general but infratentorial stressed brain atrophy with widening of 
      the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus 
      callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular 
      hypotonia and developed severe motor and mental retardation, accompanied by 
      microsomia and generalized epileptic seizures. At age 8 months, he died of sudden 
      nocturnal respiratory and cardiac failure. The peculiarity of this case is the 
      combination of Down syndrome with midline developmental defects (callosal 
      dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative 
      encephalopathy. There are no previous reports of this combination, but there are 
      genetic links between Down syndrome and midline defects concerning the Drosophila 
      single-minded (sim) gene. The expression pattern of the human sim corresponding 
      gene suggests that it might be involved in the pathogenesis of midline defects in 
      Down syndrome.
FAU - Kieslich, Matthias
AU  - Kieslich M
AD  - Department of Pediatric Neurology, Johann Wolfgang Goethe University, 
      Frankfurt/Main, Germany. matthias.kieslich@kgu.de
FAU - Fuchs, Sigrun
AU  - Fuchs S
FAU - Vlaho, Stefan
AU  - Vlaho S
FAU - Maisch, Ulrike
AU  - Maisch U
FAU - Boehles, H
AU  - Boehles H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Child Neurol
JT  - Journal of child neurology
JID - 8606714
RN  - 0 (Basic Helix-Loop-Helix Transcription Factors)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Drosophila Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (sim protein, Drosophila)
SB  - IM
MH  - Atrophy
MH  - Basic Helix-Loop-Helix Transcription Factors
MH  - Brain/*pathology
MH  - Cerebellum/pathology
MH  - Corpus Callosum/*pathology
MH  - DNA-Binding Proteins/genetics
MH  - Down Syndrome/genetics/*pathology
MH  - Drosophila Proteins
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Nuclear Proteins/genetics
EDAT- 2002/08/15 10:00
MHDA- 2003/02/21 04:00
CRDT- 2002/08/15 10:00
PHST- 2002/08/15 10:00 [pubmed]
PHST- 2003/02/21 04:00 [medline]
PHST- 2002/08/15 10:00 [entrez]
AID - 10.1177/088307380201700614 [doi]
PST - ppublish
SO  - J Child Neurol. 2002 Jun;17(6):460-2. doi: 10.1177/088307380201700614.