title: Spectrum of urorectal septum malformation sequence.
abstract: Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS.
authors.affiliation: Department of Obstetrics and Gynecology, Melaka Manipal Medical College, Manipal, India.
authors.forename: Krupa
authors.initials: K
authors.lastname: Shah
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India.
authors.forename: Shalini S
authors.initials: SS
authors.lastname: Nayak
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000015:Abnormalities, Multiple; D000071056:Anorectal Malformations / Q000175:diagnosis*; D001344:Autopsy; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000175:diagnosis*
keywords: ambiguous genitalia; cloacal malformation; oligohydramnios; urorectal septum malformation sequence; urorectal septum malformation spectrum