Apert Syndrome: Report of a rare congenital malformation

Rathore, Ehsan; Rathore, Altaf Hussain

doi:10.12669/pjms.333.12878

Cited by 2 publications

(3 citation statements)

References 10 publications

(17 reference statements)

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“…In addition to cranial suture synostosis, syndromic craniosynostosis also has some typical manifestations. For instance, classic Saethre‐Chotzen syndrome patients always have coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unilateral coronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus), 20 Crouzon syndrome is characterized by prominent eyes, mandibular prognathism, midfacial hypoplasia 21 and Apert syndrome patients always present similar craniofacial manifestations with Crouzon syndrome, and with symmetric syndactyly of the hands and feet 22 . Therefore, the craniofacial features of the various syndromes can be very similar, especially when the patients have no digit malformations.…”

Section: Discussionmentioning

confidence: 99%

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient

Bai

Geng

Duan

et al. 2021

Orthod Craniofacial Res

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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 coiled‐coil domain 3 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.

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Section: Discussionmentioning

confidence: 99%

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient

Bai

Geng

Duan

et al. 2021

Orthod Craniofacial Res

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“…The incidence is 1/65,000 to 1/200,000 live births. 2,3 The surgical reconstruction of the hand is a complicated and lengthy process. Many different techniques of digit separation have been proposed.…”

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confidence: 99%

“…Apert syndrome (acrocephalosyndactyly) was first described by Apert in 1906,1 Craniosynostosis and complex syndactyly of the hands and feet are the common features. The incidence is 1/65,000 to 1/200,000 live births 2,3…”

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confidence: 99%

Satisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor

Winge

Røkkum

2021

Journal of Pediatric Orthopaedics

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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.

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Apert Syndrome: Report of a rare congenital malformation

Cited by 2 publications

References 10 publications

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient

Satisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor

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