The spectrum of arthrogryposis in 33 chinese children
1Department of Paediatrics, University of Hong Kong, Queen Mary Hospital, Hong Kong.
Insights
This study analyzed 33 children with multiple congenital contractures, finding most had arthrogryposis multiplex congenita. The majority of these children with congenital contractures showed good prognoses for function and mobility.
Area of Science:
- Pediatrics
- Genetics
- Clinical Medicine
Background:
- Multiple congenital contractures represent a diverse group of conditions affecting newborns.
- Arthrogryposis multiplex congenita is a common diagnosis within this spectrum.
- Understanding the clinical profiles and prognoses is crucial for patient management.
Purpose of the Study:
- To describe the clinical characteristics of children diagnosed with multiple congenital contractures.
- To classify these children into distinct groups based on their clinical presentation.
- To evaluate the prognosis and functional outcomes for affected children.
Main Methods:
- A retrospective clinical study was conducted on 33 children with multiple congenital contractures.
- Patients were categorized into three groups based on the extent and type of involvement: limb-only, limb with other anomalies, and limb with CNS dysfunction.
- Clinical data, diagnoses, and outcomes were analyzed.
Main Results:
- The study included 19 boys and 14 girls, with 54% diagnosed with arthrogryposis multiplex congenita.
- Group I (limb involvement only) comprised 21 children, including arthrogryposis multiplex congenita, distal arthrogryposis, and Streeter syndrome.
- Group II (limb involvement with other anomalies) included 7 children with conditions like congenital contractural arachnodactyly and Larsen syndrome.
- Group III (limb involvement with CNS dysfunction) included 5 children with diagnoses such as myotonia dystrophica and fetal alcohol syndrome.
- Three children died due to their underlying conditions.
- The majority of children demonstrated a good prognosis, achieving independent function and mobility.
Conclusions:
- Multiple congenital contractures present with varied clinical profiles, necessitating careful classification.
- While some conditions have severe implications, many children with congenital contractures achieve positive functional outcomes.
- Early diagnosis and classification are essential for predicting prognosis in pediatric congenital contracture cases.
Abstract:
The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or mental retardation; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1). Three children died, one each of arthrogryposis multiplex congenita, congenital contractural arachnodactyly and myotonia dystrophica. The majority had a good prognosis with independent function and mobility.
