Overview
Lethal congenital contracture syndrome type 2, also known as Pena-Shokier phenotype, is an early lethal disorder characterized by multiple joint contractures, facial anomalies, and often pulmonary hypoplasia or insufficiency. It can result from neuromuscular disorders, neuromuscular junction blockade, or cerebral dysfunction including brain malformations 1.Diagnosis
Clinical Presentation: Multiple joint contractures, facial anomalies, pulmonary insufficiency, and potential cerebral malformations 1.
Imaging: Prenatal ultrasound may reveal joint contractures and pulmonary hypoplasia 1.
Histological and Histochemical Studies: Abnormalities in dermal collagen bundles and joint capsule collagen fibers, indicative of connective tissue disorder 3.
Genetic Testing: Chromosomal analysis focusing on chromosome 9q34 region, particularly markers D9S1825 to D9S1830, may identify causative mutations 2.Management
Supportive Care: Focus on respiratory support due to frequent pulmonary insufficiency; mechanical ventilation may be necessary 13.
Multidisciplinary Approach: Involves neonatologists, geneticists, and orthopedic specialists for comprehensive care 1.
No Specific Pharmacological Treatment: Current evidence does not support specific drug treatments beyond supportive care 123.Special Populations
Pregnancy: Prenatal diagnosis through ultrasound and genetic testing can identify at-risk pregnancies 12.
Pediatrics: Early intervention focuses on palliative care due to the lethal nature of the syndrome 13.Key Recommendations
Genetic Counseling and Testing: Offer genetic counseling and targeted chromosomal analysis for families with suspected cases (Evidence: Moderate 2).
Prenatal Surveillance: Implement prenatal ultrasound surveillance for joint contractures and pulmonary development in high-risk pregnancies (Evidence: Moderate 1).
Multidisciplinary Neonatal Care: Provide comprehensive neonatal care involving multiple specialties to manage respiratory and musculoskeletal complications (Evidence: Expert opinion 13).References
1 Kho N, Czarnecki L, Kerrigan JF, Coons S. Pena-Shokier phenotype: case presentation and review. Journal of child neurology 2002. link
2 Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M et al.. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. American journal of human genetics 1998. link
3 Chen H, Chang CH, Perrin E, Perrin J. A lethal, Larsen-like multiple joint dislocation syndrome. American journal of medical genetics 1982. link