Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.
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.
Kosho
Tomoki
T
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@hsp.md.shinshu-u.ac.jp
Takahashi
Jun
J
Ohashi
Hirofumi
H
Nishimura
Gen
G
Kato
Hiroyuki
H
Fukushima
Yoshimitsu
Y
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*