CoChat
Sign Up
Cited by 51Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

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

Kosho, Tomoki, Takahashi, Jun, Ohashi, Hirofumi, Nishimura, Gen, Kato, Hiroyuki, Fukushima, Yoshimitsu·2005·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.30965
Open this paper in CoChat — free account

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. © 2005 Wiley‐Liss, Inc.

Integrity signals

Registry

Crossref · 10.1002/ajmg.a.30965

Cites

11 of 11 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Kosho et al. [2005] proposed that these patients represented a clinically recognizable subgroup of EDS, tentatively classified as EDS type VIB.

    “Kosho et al. [2005] proposed that these patients represented a clinically recognizable subgroup of EDS, tentatively classified as EDS type VIB.”

    From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2005

  • EDS caused by D4ST1 deficiency was initially reported as three independent conditions, ATCS, EDS Kosho Type, and musculocontractural EDS, all now concluded to be a single clinical entity.

    “EDS caused by D4ST1 deficiency has initially been reported as three independent conditions: A rare type of arthrogryposis syndrome, “adducted thumbclubfoot syndrome (ATCS)”; a specific type of EDS, “EDS, Kosho Type (EDSKT)”; and a subset of kEDS without lysyl hydroxylase deficiency, “musculocontractural EDS (MCEDS),” all of which are now concluded to be a single clinical entity”

    From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2005

Cites

Flagged first, then by citations

1 of the 12 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Related

Authors
Kosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., & Fukushima, Y.
Affiliations
  • Shinshu University (JP)
  • Saitama Children's Medical Center (JP)
  • Tokyo Metropolitan Kiyose Children's Hospital (JP)
Corresponding author
Kosho, Tomoki
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2005-09-20
Volume
138A
Issue
3
Pages
282-287
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.30965
OpenAlex
W2056817486
Cited by
51
References
12
Citations by year
2026: 1 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 3 · 2017: 3 · 2015: 3 · 2014: 2 · 2013: 4 · 2012: 7
FWCI
0.36
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
Marfanoid habitus, pectus excavatum, joint contractures, scoliosis, facial dysmorphism, hypertelorism, clubfoot, parental consanguinity, cystitis, hearing loss
MeSH terms
Adolescent, Child, Child, Preschool, Clubfoot, Consanguinity, Contracture, Ehlers-Danlos Syndrome, Female, Hand Deformities, Humans, Infant, Infant, Newborn, Radiography, Spinal Curvatures, Facies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review