title: Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
abstract: 9q22.3 microdeletion syndrome is a well-described contiguous deletion syndrome with features of Gorlin syndrome and other manifestations. Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, hydrocephalus, intellectual disability, and minor facial anomalies. The critical region for this condition was found to include the PTCH1 and FANCC genes; however, other genes are often deleted in affected individuals but their role in the observed phenotype is not understood. Fewer than 50 individuals with 9q22.3 microdeletion have been reported, all diagnosed postnatally on the basis of the phenotype. A confirmed prenatal diagnosis and accompanying fetal imaging has not been reported to date. We describe a patient with prenatally diagnosed 9q22.3 microdeletion syndrome following the ultrasonographic identification of trigonocephaly, macrosomia, organomegaly, ventriculomegaly, and anomalous vertebrae.
authors.affiliation: Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Sara Chadwick
authors.initials: SC
authors.lastname: Reichert
authors.forename: Kristin
authors.initials: K
authors.lastname: Zelley
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
authors.forename: Moriah
authors.initials: M
authors.lastname: Eberhard
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Juan
authors.initials: J
authors.lastname: Martinez-Poyer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000235:genetics; D007223:Infant; D006831:Polyhydramnios / Q000000981:diagnostic imaging* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: 9q22.3 microdeletion syndrome; Gorlin syndrome; craniosynostosis; macrosomia; prenatal diagnosis; prenatal microarray