title: Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report.
abstract: Extreme variability of expression is characteristic of the facio-auriculo-vertebral sequence. Sporadic and familial cases have been reported with obvious etiologic heterogeneity. Most reports in the literature are of clinical cases. The purpose of this paper is to present a fetal autopsy case report of the facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation. A standard neonatal autopsy was performed on a macerated female fetus, gestational age 29 wk. External examination of the fetus revealed hypoplastic right face, low-set microtic right ear, and macrostomia. Internal examination showed hypoplastic thymus and lungs, a type I truncus arteriosus, and ventricular septal defect. Both kidneys showed evidence of pelvi-ureteric junction obstruction. The ovaries and fallopian tubes were present with an absent uterus and vagina (Rokitansky sequence). In addition, Dandy-Walker malformation was identified. Microscopically, a single hypoplastic parathyroid gland was noted and there was cystic renal dysplasia. We report the sixth case of the facio-auriculo-vertebral sequence in association with Rokitansky sequence and the first case of this sequence in association with Dandy-Walker malformation. In addition, features of DiGeorge sequence were present.
authors.affiliation: Division of Anatomical Pathology, Department of Pathology, University of Cape Town Medical School/Groote Schuur Hospital, Anzio Road, Observatory, 7925 Cape Town, South Africa. komala@chempath.uct.ac.za
authors.forename: Komala
authors.initials: K
authors.lastname: Pillay
authors.forename: Louise S
authors.initials: LS
authors.lastname: Matthews
authors.forename: Helen C
authors.initials: HC
authors.lastname: Wainwright
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology* / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000196:embryology*; D004062:DiGeorge Syndrome / Q000150:complications / Q000196:embryology*; D004423:Ear / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000150:complications / Q000196:embryology* / Q000473:pathology; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities