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Pediatrics & Neonatology
Volume 50, Issue 5
, Pages 234-238
, October 2009
Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure
References
- . Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s) . Teratology . 1976;14:185–194
- . Genetic study of nonsyndromic coronal craniosynostosis . Am J Med Genet . 1995;55:500–504
- . Pfeiffer syndrome update: clinical subtypes and guidelines for differential diagnosis . Am J Med Genet . 1993;45:300–307
- . Alcohol embryo-and fetopathy . J Neurol Sci . 1979;41:125–137
- . Craniosynostosis: Genes and mechanisms . Hum Mol Genet . 1997;6:1647–1656
-
.
In:
Craniosynostosis: Diagnosis, Evaluation, and Management
. 2nd ed. Oxford: Oxford University Press; 2000;p. 454
-
.
Craniosynostosis syndromes
.
In:
Scriver CR
, Beaudet AL
, Sly WS
, Valle D
editor.
The Metabolic and Molecular Bases of Inherited Disease
. 8th ed. New York: McGraw-Hill; 2000;p. 6117–6146
-
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
.
Nature Genet
. 1994;8:269–274
-
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
.
Nature Genet
. 1995;9:173–176
-
.
FGFR2 mutations in Pfeiffer syndrome
.
Nature Genet
. 1995;9:108
- Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome . Hum Mol Genet . 1995;4:323–328
- . Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy . Teratology . 1994;50:13–18
- . Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis . Int J Epidemiol . 1998;27:64–67
- Genetic and environmental risk factors for sagittal craniosynostosis . J Craniofac Surg . 2002;13:602–606
- . Perspectives on holoprosencephaly. Part I. Epidemiology, genetics, and syndromology . Teratology . 1989;40:211–235
- . Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities, and discontinuities . Am J Med Genet . 1989;34:271–288
- . Holoprosencephaly, epidemiologic and clinical characteristics of a California population . Am J Med Genet . 1996;64:465–472
- . Holoprosencephaly: from Homer to hedgehog . Clin Genet . 1998;53:155–163
- . Holoprosencephaly survival and performance . Am J Med Genet . 1999;89:116–120
- . Molecular mechanisms of holoprosencephaly . Mol Genet Metab . 1999;68:126–138
-
.
Genetic approaches to understanding brain development: holoprosencephaly as a model
.
Ment Retard Dev Disabil
. 2000;6:15–21
-
.
Holoprosencephaly
.
In:
Scriver CR
, Beaudet AL
, Sly WS
, Valle D
, Childs B
, Kinzler KW
, Vogelstein B
editor. 8th ed.
The Metabolic and Molecular Bases of Inherited Disease
. Vol. 4:
New York: McGraw-Hill; 2001;p. 6203–6230
- . Recurrence of holoprosencephaly in families with a positive history . Clin Genet . 1983;24:324–328
-
.
Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations
.
Acta Neuropathol (Berl)
. 1981;55:1–10
-
.
Alcohol as a teratogen: a teratologist's perspective on the fetal alcohol syndrome
.
In:
Batt RD
, Crow C
editor.
Human Metabolism of Alcohol
. Cleveland: CRC Press; 1983;
- . Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol . Teratology . 1991;44:29–36
- . Ethanol impairs migration of the prechordal plate in the zebrafish embryo . Dev Biol . 1998;201:185–201
-
.
Methanol causes the holoprosencephaly spectrum of malformations at lower dosages than ethanol in C57BL/6J mice [Abstract]
.
Teratology
. 1995;51:195
-
.
Environmental agents that have the potential to trigger massive apoptotic neurodegeneration in the developing brain
.
Environ Health Perspect
. 2000;108(Suppl):3383–3388
- . Perspectives on holoprosencephaly. Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies . J Craniofac Genet Dev Biol . 1992;12:196–244
- . Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development . Am J Hum Genet . 1995;57:748–754
- Mutation detection in FGFR2 craniosynostosis syndromes . Hum Genet . 1997;99:251–255
- Molecular diagnosis of bilateral coronal synostosis . Plast Reconstr Surg . 1999;104:1603–1615
- Pfeiffer syndrome type 2: further delineation and review of the literature . Am J Med Genet . 1998;75:245–251
-
Mutations of the TWIST gene in Saethre-Chotzen syndrome
.
Nature Genet
. 1997;15:42–46
- Genetic heterogeneity of Saethre-Chotzen syndrome? due to TWIST and FGFR mutations . Am J Hum Genet . 1998;62:1370–1380
- Mutations in TWIST, a basic heliz-loop-helix transcription factor, in Saethre-Chotzen syndrome . Nat Genet . 1997;15:36–41
- . Maternal smoking and craniosynostosis . Teratology . 1999;60:146–150
- . Holoprosencephaly as a possible embryonic alcohol effect . Am J Med Genet . 1991;40:151–154
- . Holoprosencephaly as a possible embryonic alcohol effect: another observation . Am J Med Genet . 1990;37:431–432
- . Midline cerebral dysgenesis, dysfunction of the hypothalamic pituitary axis, and fetal alcohol effects . Arch Neurol . 1993;50:771–775
PII: S1875-9572(09)60069-3
doi: 10.1016/S1875-9572(09)60069-3
© 2009 Taiwan Pediatric Association. Published by Elsevier Inc. All rights reserved.
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Pediatrics & Neonatology
Volume 50, Issue 5
, Pages 234-238
, October 2009
