Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure
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 sm...
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| Format: | Article |
| Language: | English |
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Elsevier
2009-10-01
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| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957209600693 |
| _version_ | 1819146643420741632 |
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| author | Pen-Hua Su Jia-Yuh Chen Inn-Chi Lee Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen |
| author_facet | Pen-Hua Su Jia-Yuh Chen Inn-Chi Lee Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen |
| author_sort | Pen-Hua Su |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T13:17:11Z |
| format | Article |
| id | doaj.art-91bd293b724147b8a22e989e65f111b3 |
| institution | Directory Open Access Journal |
| issn | 1875-9572 |
| language | English |
| last_indexed | 2024-12-22T13:17:11Z |
| publishDate | 2009-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj.art-91bd293b724147b8a22e989e65f111b32022-12-21T18:24:35ZengElsevierPediatrics and Neonatology1875-95722009-10-0150523423810.1016/S1875-9572(09)60069-3Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol ExposurePen-Hua Su0Jia-Yuh Chen1Inn-Chi Lee2Yan-Yan Ng3Jui-Ming Hu4Suh-Jen Chen5Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanWe 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.http://www.sciencedirect.com/science/article/pii/S1875957209600693fetal alcohol syndromeholoprosencephalyPfeiffer syndrome |
| spellingShingle | Pen-Hua Su Jia-Yuh Chen Inn-Chi Lee Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure Pediatrics and Neonatology fetal alcohol syndrome holoprosencephaly Pfeiffer syndrome |
| title | Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure |
| title_full | Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure |
| title_fullStr | Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure |
| title_full_unstemmed | Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure |
| title_short | Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure |
| title_sort | pfeiffer like syndrome with holoprosencephaly a newborn with maternal smoking and alcohol exposure |
| topic | fetal alcohol syndrome holoprosencephaly Pfeiffer syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1875957209600693 |
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