title: Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.
abstract: We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.
authors.affiliation: Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman. drarajab@omantel.net.om
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: K
authors.initials: K
authors.lastname: Hoffmann
authors.forename: A
authors.initials: A
authors.lastname: Ganesh
authors.forename: A U
authors.initials: AU
authors.lastname: Sethu
authors.forename: S
authors.initials: S
authors.lastname: Mundlos
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D005192:Family Health; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities*; D008297:Male; D009850:Oman; D011625:Pterygium / Q000473:pathology; D012600:Scoliosis / Q000473:pathology*; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*