title: Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?
abstract: We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.
authors.affiliation: Department of Pediatrics, Miyazaki Medical College, Miyazaki, Japan. sonodat@post1.miyazaki-med.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Sonoda
authors.forename: K
authors.initials: K
authors.lastname: Kouno
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D001763:Blepharoptosis / Q000175:diagnosis* / Q000235:genetics; D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003241:Consanguinity; D003456:Cryptorchidism / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007360:Intelligence / Q000235:genetics; D008297:Male; D009679:Nuclear Family; D011859:Radiography