Document Detail

Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.
MedLine Citation:
PMID:  19856868     Owner:  NLM     Status:  MEDLINE    
We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displayed microcephaly, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with fetal alcohol syndrome. She suffered from multiple congenital anomalies and died at 41 days of age. Cardio-pulmonary failure, brain abnormalities, prematurity, and multiple complications contributed to her death. The patient displayed normal chromosomal numbers and type. DNA analysis did not reveal fibrobtast growth factor receptor (FGFR) genes FGFR1, FGFR2, FGFR3 or TWIST gene mutations. We review the previous reports of Pfeiffer syndrome and holoprosencephaly and describe our infant patient with Pfeiffer-like syndrome, holoprosencephaly, and heavy in utero maternal alcohol and smoking exposures.
Pen-Hua Su; Jia-Yuh Chen; Inn-Chi Lee; Yan-Yan Ng; Jui-Ming Hu; Suh-Jen Chen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatrics and neonatology     Volume:  50     ISSN:  1875-9572     ISO Abbreviation:  -     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-27     Completed Date:  2009-11-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101484755     Medline TA:  Pediatr Neonatol     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  234-8     Citation Subset:  IM    
Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
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MeSH Terms
Acrocephalosyndactylia / etiology*
Alcohol Drinking / adverse effects*
Holoprosencephaly / etiology*
Infant, Newborn
Receptors, Fibroblast Growth Factor / genetics
Smoking / adverse effects*
Reg. No./Substance:
0/Receptors, Fibroblast Growth Factor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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