Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]
J Med GenetGraham SA +5 more
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Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome. [PDF]
Prenat DiagnHodges MB, Gilmore KL, Dyke MJ, Vora NL.
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A Case of Ethmocephaly in a Clomiphene Citrate Induced Pregnancy: A Case Report and Literature Review. [PDF]
Clin Case RepNegasi Gebreslase M +7 more
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Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-Related Hartsfield Syndrome Phenotype. [PDF]
Med Sci (Basel)Gaudioso F, Pascolini G.
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Cyclopia Syndrome with Neck Presentation: A Case of Alobar Holoprosencephaly and Prenatal Diagnostic Challenges. [PDF]
Int Med Case Rep JTaifour W +4 more
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Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths. [PDF]
Cleft Palate Craniofac JWan R +5 more
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Surgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey. [PDF]
Cleft Palate Craniofac JSullivan LE +6 more
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Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report. [PDF]
J Yeungnam Med SciJung JH, Jeong J, Kim SH.
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Cyclopia, A Rare and Lethal Congenital Anomaly: Report of Two Cases, 2025. [PDF]
Int Med Case Rep JTesfai B +3 more
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Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report. [PDF]
AJOG Glob RepMinchola-Vega JL +2 more
europepmc +1 more source