title: Rokitansky sequence in association with the facio-auriculo-vertebral sequence: part of a mesodermal malformation spectrum?
abstract: We report on a 4-year-old first-born monozygotic twin girl with a hypoplastic left face, mandible and zygoma, left microtia without an external auditory canal, a U-shaped cleft palate, right ectopic-fused kidneys, a blindly ending vaginal pouch, and absent uterus. We review 3 other cases with the manifestations of the Rokitansky and the facio-auriculo-vertebral sequence. The anomalies in these disorders can be thought of as deriving from an early defect or disruption in fetal mesoderm or its progenitor tissue at the time of primitive streak formation. They are frequently associated with other mesodermally derived defects or sequences and may together represent an extended polytopic field defect. While such speculation on how these spatially separated anomalies develop is probably simplistic, the concept of a mesodermal "malformation" spectrum is helpful in reminding the clinician to look for other mesodermal defects when one mesodermally derived defect or sequence is detected.
authors.affiliation: Medical Genetics/Dysmorphology, National Naval Medical Center, Bethesda, Maryland 20814.
authors.forename: E A
authors.initials: EA
authors.lastname: Wulfsberg
authors.forename: T M
authors.initials: TM
authors.lastname: Grigbsy
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000209:etiology* / Q000235:genetics; D002675:Child, Preschool; D004200:Diseases in Twins; D004423:Ear / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000196:embryology / Q000209:etiology* / Q000235:genetics; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008648:Mesoderm / Q000473:pathology; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014430:Twins, Monozygotic