TY - JOUR
T1 - Syndromic Involvement of Patients Presenting With Congenital Upper Limb Anomalies
T2 - An Analysis of 4,317 Cases
AU - CoULD Study Group
AU - Wildenauer, Linzie
AU - Mavrommatis, Sophia
AU - Bae, Donald S.
AU - Steinman, Suzanne E.
AU - Wall, Lindley B.
AU - Van Heest, Ann E.
N1 - Publisher Copyright:
© 2024 American Society for Surgery of the Hand
PY - 2024/4
Y1 - 2024/4
N2 - Purpose: This study investigated the patterns of syndromic involvement for patients with congenital upper limb anomalies (CULAs). We hypothesize that patients with CULAs will present with predictable syndromic patterns. Methods: This retrospective study queried the multicenter Congenital Upper Limb Differences (CoULD) Registry. Of the 4,317 patients enrolled, 578 (13%) reported one or more syndromes. Syndromes were confirmed to be recognized by the Online Mendelian Inheritance in Man. Demographics were reviewed and compared with the full CoULD registry group. Syndromes reported by five or more patients were examined to determine the type of CULA according to Oberg/Manske/Tonkin classifications. Results: Of the 578 children with one or more reported syndromes, 517 had Online Mendelian Inheritance in Man recognized syndromes (cohort A), In cohort A, 58 syndromes were each represented by a single patient within the registry. Forty-eight syndromes in cohort A were reported by two or more patients, which accounted for 461 of the total patients with reported syndromes. However, VACTERL and Poland syndromes were the most commonly reported syndromes. Patients with CULAs and syndromes frequently exhibited bilateral involvement (61%), compared with the entire CoULD group (47%) and other orthopedic (50%) and medical conditions (61%) compared with the entire CoULD group (24% and 27%, respectively). Additionally, they exhibited a lower frequency of family history of a congenital orthopedic condition (21%) or a family member with the same CULA (9%) compared with the entire CoULD group (26% and 14%, respectively). Conclusions: Associated syndromes were recorded in 578 patients (13%) in the CoULD registry as follows: 58 syndromes represented by a single patient, 48 by 2 or more patients, and 23 syndromes by 5 or more patients. Rare syndromes that are only represented by a single patient are more likely to be unknown by a pediatric hand surgeon, and consultation with a geneticist is advised. Type of study/level of evidence: Differential Diagnosis/Symptom Prevalence Study IV.
AB - Purpose: This study investigated the patterns of syndromic involvement for patients with congenital upper limb anomalies (CULAs). We hypothesize that patients with CULAs will present with predictable syndromic patterns. Methods: This retrospective study queried the multicenter Congenital Upper Limb Differences (CoULD) Registry. Of the 4,317 patients enrolled, 578 (13%) reported one or more syndromes. Syndromes were confirmed to be recognized by the Online Mendelian Inheritance in Man. Demographics were reviewed and compared with the full CoULD registry group. Syndromes reported by five or more patients were examined to determine the type of CULA according to Oberg/Manske/Tonkin classifications. Results: Of the 578 children with one or more reported syndromes, 517 had Online Mendelian Inheritance in Man recognized syndromes (cohort A), In cohort A, 58 syndromes were each represented by a single patient within the registry. Forty-eight syndromes in cohort A were reported by two or more patients, which accounted for 461 of the total patients with reported syndromes. However, VACTERL and Poland syndromes were the most commonly reported syndromes. Patients with CULAs and syndromes frequently exhibited bilateral involvement (61%), compared with the entire CoULD group (47%) and other orthopedic (50%) and medical conditions (61%) compared with the entire CoULD group (24% and 27%, respectively). Additionally, they exhibited a lower frequency of family history of a congenital orthopedic condition (21%) or a family member with the same CULA (9%) compared with the entire CoULD group (26% and 14%, respectively). Conclusions: Associated syndromes were recorded in 578 patients (13%) in the CoULD registry as follows: 58 syndromes represented by a single patient, 48 by 2 or more patients, and 23 syndromes by 5 or more patients. Rare syndromes that are only represented by a single patient are more likely to be unknown by a pediatric hand surgeon, and consultation with a geneticist is advised. Type of study/level of evidence: Differential Diagnosis/Symptom Prevalence Study IV.
KW - Congenital upper limb anomalies
KW - genetics
KW - multicenter registry
KW - syndromes
UR - http://www.scopus.com/inward/record.url?scp=85182678207&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85182678207&partnerID=8YFLogxK
U2 - 10.1016/j.jhsa.2023.11.020
DO - 10.1016/j.jhsa.2023.11.020
M3 - Article
C2 - 38231172
AN - SCOPUS:85182678207
SN - 0363-5023
VL - 49
SP - 311
EP - 320
JO - Journal of Hand Surgery
JF - Journal of Hand Surgery
IS - 4
ER -