title: A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
abstract: We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.
authors.affiliation: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
authors.forename: Jun
authors.initials: J
authors.lastname: Takahashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kato
authors.forename: Teruyoshi
authors.initials: T
authors.lastname: Miyahara
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Igawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yasui
authors.forename: Tadao
authors.initials: T
authors.lastname: Ishida
authors.forename: Kurahito
authors.initials: K
authors.lastname: Ono
authors.forename: Takashi
authors.initials: T
authors.lastname: Kosuda
authors.forename: Akihiko
authors.initials: A
authors.lastname: Inoue
authors.forename: Mohei
authors.initials: M
authors.lastname: Kohyama
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hattori
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Rie
authors.initials: R
authors.lastname: Kawamura
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003286:Contracture / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D007596:Joints / Q000002:abnormalities*; D008297:Male; D012868:Skin Abnormalities / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult