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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
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.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Townes-Brocks syndrome, also known as REAR (Renal, Ear, Anal, Radial), is an autosomal dominant disorder with variable penetration due to mutation in the SALL1 gene, which codes for a transcription protein and has been mapped to chromosome 16q12. Townes-Brocks syndrome has some phenotypes that overlap those of VACTERL association, such as renal defects, external ear anomalies, hearing loss, imperforate anus, and polydactyly [67]. In patients diagnosed with Townes-Brocks syndrome, the most common limb defects are preaxial polydactyly and triphalangeal thumb, while imperforate anus is the most common anal anomaly. Genitourinary anomalies may also be present [67]. Townes-Brocks syndrome patients may also be affected by microtia, preauricular tags, or pits, whereas ear anomalies are not expected in VACTERL association (Figure 19). In contrast to VACTERL, Townes-Brocks syndrome does not manifest with vertebral anomalies or TEF.