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 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.
Su
Pen-Hua
PH
Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Chen
Jia-Yuh
JY
Lee
Inn-Chi
IC
Ng
Yan-Yan
YY
Hu
Jui-Ming
JM
Chen
Suh-Jen
SJ
D000168:Acrocephalosyndactylia / Q000209:etiology*; D000428:Alcohol Drinking / Q000009:adverse effects*; D005260:Female; D016142:Holoprosencephaly / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012907:Smoking / Q000009:adverse effects*
D017468:Receptors, Fibroblast Growth Factor