title: Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.
abstract: Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.
authors.affiliation: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@hsp.md.shinshu-u.ac.jp
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Jun
authors.initials: J
authors.lastname: Takahashi
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kato
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D003241:Consanguinity; D003286:Contracture / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000503:physiopathology*; D019066:Facies; D005260:Female; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011859:Radiography; D013121:Spinal Curvatures / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*