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A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas...
Citations
The pathological processes of the central nervous system, intrinsic or extrinsic, occurring during the embryonic period are the most common cause of pregnancy termination. The defects of the neural tube which is primitive form of brain and spinal cord are the most common central nervous system (CNS) malformations. In some defects the fetus continues to develop and results in the birth of a child with sever mental and physical deficiencies. The corpus callosum is the largest white matter tract connecting the two cerebral hemispheres and permits the transfer of information between the two cerebral hemispheres. Its partial or complete agenesis is caused by abnormalities during embryonic development. The severity of symptoms varies widely depending on the degree of dysgenesis. Hypotonia, visual impairment, seizures, spasticity, motor co-ordination issues, and atypical facial features are common symptoms. In this review we focus on genetic causes, clinical manifestations and diagnosis of various malformations of central nervous system with special emphasis on Corpus Callosum.
Background
The complex syndactyly in Apert syndrome hands is challenging to operate. The synostosis and tightness of skin between third and fourth digits lead to severe coverage problems during ray release. A soft tissue distractor can simplify the release with the aim to keep all 10 fingers.
Methods
A retrospective follow-up of 12 patients/24 hands, median age 8 years (6 to 17 y), 6 boys and 6 girls, operated between 2000 and 2013 was done from 2015 to 2016. The surgical management started with syndactyly release of the first and fourth web, and later of the second. The third stage was placing a soft tissue distractor on the third and fourth finger after osteotomy on the synostosis between them. Four weeks of distraction and 2 weeks of rest resulted in regenerated skin between the digits giving much better coverage of the released digits at time of separation 6 weeks later. Assessment of hand function, grip strength and completion of the Patient Reported Outcome Measure CHEQ was performed.
Results
Soft tissue coverage at the time of digit separation was considerably facilitated. We experienced 2 infections in 2 hands. In 18/24 hands median 2 (1 to 3) small full thickness skin grafts were needed, usually for coverage of the base of the digits. All wounds healed well. The children managed different practical tasks well, alternating between best functioning grip depending on the activity. According to CHEQ, the children did median 19 (13 to 27) activities independently and median 8 (2 to 15) nonindependently, of a total of 29. Peak strength values for 10/12 children were for the right hand median 17.8% (9.6% to 40.6%) of normative data and for left hand median 13.6% (2.4% to 20.5%) of normative data.
Conclusion
Soft tissue distraction facilitates the treatment of acrocephalosyndactyly hands, giving 5-fingered hands. Apert children manage many activities independently but struggled with fine motor skills demanding strength.
Level of Evidence
Level IV evidence.
Introduction:
Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients. Settings and sample population: Whole blood samples were collected from the patient and family members.
Material and methods:
Whole exome sequencing was performed to identify potential mutations in the patient. The results were verified by Sanger sequencing by comparing SPECC1L gene sequence of blood samples from 100 unrelated population-matched controls.
Results:
The patient presented with craniosynostosis with fusion of the bicoronal and sagittal sutures. A novel missense mutation (c.2612C>T, p.Pro871Leu) in the SPECC1L gene was identified. Gene analysis showed a missense mutation in exon1 of SPECC1L that led to an amino acid substitution in the region between CCD3 and calponin homology domain.
Conclusion:
Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of SPECC1L-related cranial disorders.
