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: Komala Pillay, Louise S Matthews, Helen C Wainwright
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) Vol. 6 Issue 4 Pg. 355-60 ( 2003) ISSN: 1093-5266 [Print] United States
• PMID: 14692650 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (embryology, pathology)
• Dandy-Walker Syndrome (complications, embryology)
• DiGeorge Syndrome (complications, embryology)
• Ear (abnormalities)
• Facial Asymmetry (complications, embryology, pathology)
• Female
• Genitalia, Female (abnormalities, pathology)
• Humans
• Pregnancy
• Spine (abnormalities)
• Uterus (abnormalities)
• Vagina (abnormalities)