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Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis:Treacher Collins syndrome: mandibulofacial dysostosis (MFD), coloboma of the lower eyelid with deficient eyelashes, normal limbs, very rare extracranial malformations caused by dominant mutations in TCOF1. Miller syndrome: MFD associated with postaxial limb defects. Mutations in the gene DHODH have been identified: autosomal recessive. Acrofacial dysostosis, Nager type (p. 418). Townes-Brocks syndrome: triad consisting of imperforate anus, dysplastic ears with or without preau-ricular tags (possibly associated with hearing impairment) and thumb malformations (triphalangeal, duplicated, hypoplastic). Associated features can include genitourinary malformations, congenital heart disease, foot malformations. Mental retardation is not common. Caused by dominant mutations in SALL1. Branchio-oto-renal (BOR) syndrome: facial asymmetry or facial palsy are variable features, branchial cleft sinus or fistula on the neck, malformations of ear structures (outer, middle and inner) cause conductive, sensorineural or mixed hearing loss, renal malformations. Autosomal dominant, there is genetic heterogeneity and three genes are known, EYA1, SIX5 and SIX1. VACTERL association (p. 590); MURCS association: uterine aplasia/hypoplasia, renal agenesis/ectopia, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormalities and deafness.
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS
Published in Fetal and Pediatric Pathology, 2021
Christoph Dracopoulos, Michael Gembicki, Jann Lennard Scharf, Amrei Welp, Nadine Berg, Jan Weichert
The fetus with VACTERL-H association described herein had a significantly worsened prognosis than a typical VACTERL association, particularly because of the severe hydrocephalus with thinned residual cortex, consistent with current literature, which describes the outcome of VACTERL-H as very poor [8]. The triad VRH of the index case emphasized a vertebral defect (divergent cervical vertebral arches, with signs of segmentation disorder), a renal anomaly (MCDK), and hydrocephalus, which does not correspond to any of the most commonly found triads of VACTERL (VAR, ACR, VAT, and VTL) [11] and could represent MURCS association. The MURCS association was originally defined by a combination of malformations comprising a Mullerian duct aplasia/hypoplasia (MU, in 96% of cases), renal agenesis and/or ectopy (R, in 80% of cases), and cervicothoracic somite dysplasia (CS, in 80% of cases). The initial description of this multisystemic disorder did not clearly specify if all three organ manifestations were required for establishing the final diagnosis. It has been proposed that abnormalities of the lower cervical somites may lead to genitourinary anomalies, especially in anomalous vertebrae at the level of C5 to T1 as seen in the present case (Figs. 3 and 4) [5]. Because the term MURCS can be confusing in the presence of only one or two of the described anomalies, due to the above mentioned phenotypic overlap with other associations and syndromes, the acronym should be reserved for patients having all three manifestations [12]. Consequently, a MURCS association was excluded in the index case as a normal, unremarkable uterus and a normal urogenital configuration were found during pathologic examination which in consequence favored a VACTERL-H association (Fig. 5) [13].