Pediatrics & Neonatology
Volume 50, Issue 5 , Pages 234-238, October 2009

Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure

  • Pen-Hua Su

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • School of Medicine, Chung Shan Medical University, Taichung, Taiwan
    • ,
  • Jia-Yuh Chen

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • School of Medicine, Chung Shan Medical University, Taichung, Taiwan
    • Corresponding Author InformationCorresponding author. Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, No. 110, Chien-Kuo North Road, Section 1, Taichung 402, Taiwan
    • ,
  • Inn-Chi Lee

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Yan-Yan Ng

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Jui-Ming Hu

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Suh-Jen Chen

      Affiliations

    • Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan

Received 11 November 2008; received in revised form 12 December 2008; accepted 6 March 2009.

Article Outline

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 fibroblast 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.

Key Words:  fetal alcohol syndrome , holoprosencephaly , Pfeiffer syndrome

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PII: S1875-9572(09)60069-3

doi:10.1016/S1875-9572(09)60069-3

Pediatrics & Neonatology
Volume 50, Issue 5 , Pages 234-238, October 2009

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