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Four Chinese Children with Acromelic Dysplasia due to FBN1 Mutations: Case Report and Literature Review

Four Chinese Children with Acromelic Dysplasia due to FBN1 Mutations: Case Report and Literature Review

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100054848
Enrollment
Unknown
Registered
2021-12-28
Start date
2021-12-28
Completion date
Unknown
Last updated
2022-12-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Acromelic Dysplasia due to FBN1 Mutation

Interventions

case series:NA

Sponsors

Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 14 Years

Inclusion criteria

Inclusion criteria: Patients with acromelic dysplasia due to FBN1 mutations that was previously diagnosed in our department by genetic testing.

Exclusion criteria

Exclusion criteria: Nil

Design outcomes

Primary

MeasureTime frame
Clinical features;—

Countries

China

Contacts

Public ContactLiang Liyang

Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University

liangliy@mail.sysu.edu.cn+86 13688891219

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026