Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

Am J Med Genet A. 2005 Oct 15;138A(3):282-7. doi: 10.1002/ajmg.a.30965.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Clubfoot / diagnostic imaging
  • Clubfoot / genetics
  • Clubfoot / physiopathology*
  • Consanguinity
  • Contracture / diagnostic imaging
  • Contracture / genetics
  • Contracture / physiopathology*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / physiopathology*
  • Facies*
  • Female
  • Hand Deformities / diagnostic imaging
  • Hand Deformities / genetics
  • Hand Deformities / physiopathology
  • Humans
  • Infant
  • Infant, Newborn
  • Radiography
  • Spinal Curvatures / diagnostic imaging
  • Spinal Curvatures / genetics
  • Spinal Curvatures / physiopathology*