title: Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
abstract: Sprengel anomaly (SA) is a rare skeletal defect characterized by uni- or bi-lateral elevation of the scapula. This anomaly is often isolated, although it can occur in association with other defects, including cervical spine malformations, cleft palate, and facial anomalies. Neural crest migration anomalies have been involved in the etiology of SA. Since the same embryological pathway accounts for some of the clinical features of deletion 22q11.2 syndrome (del22q11.2; DiGeorge/Velo-Cardio-Facial syndrome), we investigated the occurrence of SA in a consecutive series of 235 del22q11.2 patients aged more than 2 years, undergoing a complete clinical and orthopedic assessment of the dorsal and thoracic skeleton. In the present series, two patients were diagnosed with true SA. Present results and published reports suggest that scapular involvement including SA occurs in 1-2% of del22q11.2 individuals. Accordingly, this anomaly should be investigated as one of the possible skeletal findings of del22q11.2 syndrome, while this diagnosis should be excluded in patients presenting with SA associated with other defects.
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Francesca Clementina
authors.initials: FC
authors.lastname: Radio
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Capolino
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Maria Lisa
authors.initials: ML
authors.lastname: Dentici
authors.affiliation: Department of Pediatrics, Sapienza University, Rome, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Unolt
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Viola
authors.initials: V
authors.lastname: Alesi
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.affiliation: Department of Pediatrics, Sapienza University, Rome, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.affiliation: Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D012540:Scapula / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D012785:Shoulder Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging
keywords: DiGeorge syndrome; Sprengel anomaly; Velo-Cardio-Facial syndrome; deletion 22q11.2 syndrome