Apert

INTRODUCTION: Reconstructing severe first web contractures often involves using either pedicled forearm flaps, which can cause extensive scarring, or free flaps, which can be highly complex. In this study, we present a local palmar hand flap that overcomes both of these challenges. METHODS: Ten fresh upper limbs were examined after arterial injection with colored latex. The study focused on identifying the most distal palmar vascular cutaneous branches suitable for designing an elliptical cutaneous flap over the volar intermetacarpal area...

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome...

Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg...

PURPOSE: Determine sensitivity, specificity, and cut-off of macular ganglion cell layer (GCL) volume consistent with optic atrophy in children with syndromic craniosynostosis (CS). Investigate whether obstructive sleep apnea (OSA), Chiari malformation, history of elevated intracranial pressure (ICP), CS diagnosis, age, or sex independently alter GCL volume with CS. DESIGN: Retrospective cross-sectional study. SUBJECTS: Patients with syndromic CS evaluated at Boston Children's Hospital (2010 - 2022) with reliable macular optical coherence tomography (OCT) scans...

Apert syndrome is a rare inherited syndrome characterised by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Syndactyly of the hands is categorised into three types with varying severity, requiring a diverse range of surgical techniques to produce good functional and aesthetic outcomes. The best age to initiate hand reconstruction is between three and 12 months. We present a case of a three-year-old boy with type III syndactyly who first presented at a volunteer outreach surgical campus in Pemba, Zanzibar...

No abstract text is available yet for this article.

BACKGROUND: The objective of this study is to report the outcomes of a modified comprehensive Apert syndrome surgical protocol in which fat injection was performed during early infancy concurrent with postposterior vault distraction osteogenesis (PVDO) distractor removal. METHODS: A retrospective study was performed on 40 consecutive young patients with Apert syndrome who underwent PVDO and subsequent distractor removal between 2012 and 2022. Of these 40 patients, 12 patients underwent facial fat injection concurrent with distractor removal to treat residual supraorbital bar recession as part of a modified comprehensive Apert syndrome surgical protocol...

BACKGROUND: Apert syndrome is predominantly caused by 2 paternally inherited gain-of-function mutations in the FGFR2 gene, Pro253Arg, and Ser252Trp. Studies comparing phenotypic features between these 2 mutations have established differences in syndactyly severity and incidence of cleft palate. Obstructive sleep apnea can be debilitating in a subset of patients with Apert syndrome, yet is not well understood. This study aims to determine whether FGFR2 mutations impart differential effects on airway physiology and morphology...

BACKGROUND: Tilapia skin has already been used in various medical scenarios, but there are no studies showing the use of tilapia skin for hand reconstruction in Apert syndrome. The objective of this study is to determine whether the use of tilapia skin during graft bed preparation for children with Apert syndrome can shorten wound reepithelialization intervals, reduce the number of dressing changes, and decrease patient discomfort. METHODS: This is a prospective study on consecutive patients with Apert syndrome who underwent hand reconstruction at our Hospital...

In modern post-transition societies, we are reproducing later and living longer. While the impact of age on female reproductive function has been well studied, much less is known about the intersection of age and male reproduction. Our current understanding is that advancing age brings forth a progressive decline in male fertility accompanied by a reduction in circulating testosterone levels and the appearance of age-dependent reproductive pathologies including benign prostatic hypertrophy and erectile dysfunction...

BACKGROUND: One of most severe clinical problems related to Apert foot anomalies is medial angulation deformities of the great toe as the foot grows. CASE PRESENTATION: The patient was a 22-month-old Japanese child with Apert syndrome, who had broad bilateral great toe showing medially angulated deformity. We performed two-stage surgical treatment including distraction of the remarkable narrowing the first inter-metatarsal space using an external distractor device, and the corrective wedge-osteotomy of the first metatarsal with a graft of wedged bone in the reverse direction and inter-positioning of the resected local bone between the first and second metatarsal to preserve the space...

OBJECTIVE: Apert syndrome (AS) is a rare congenital craniofacial disorder that requires a multidisciplinary approach to treatment and multiple surgeries. Given that cleft palate (CP) is presented in some of these cases, this poses an additional risk of aggravating obstructed airways after closure. The timing and outcome of CP repair in these patients remains disputed and requires additional attention. DESIGN: This retrospective analysis included patients diagnosed with CP and AS, born between 1950 and 2020, and treated at our institution...

Apert Syndrome (AS) is a rare form of acrocephalosyndactyly. The aim of the manuscript was to underline the challenging squint management in a case of Apert Syndrome. A 1.5-year-old male with craniosynostosis, diagnosed at birth, with history of incomplete closure of eyes, more so in the right eye, and squinting of left eye since birth, was brought to eye OPD by the mother. Presence of acrocephaly, prominent forehead with bony irregularity, chin down with left head tilt, fused cervical vertebrae, marked proptosis, cleft palate, dental anomaly and syndactyly confirmed the diagnosis of AS...

No abstract text is available yet for this article.

OBJECTIVE: Apert syndrome, an autosomal dominant congenital disorder characterized by craniosynostosis, is caused by a missense mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Exosomes are naturally occurring carriers that deliver nucleic acids, including small interfering RNA (siRNA), to induce gene silencing. This study aimed to develop siRNA-loaded exosomes (Ex-siRNAFgfr2S252W ) to silence the Fgfr2S252W gain-of-function mutation, thereby inhibiting the increased osteoblastic differentiation caused by the constitutive activation of FGFR2 signaling in calvarial osteoblastic cells isolated from Apert syndrome model mice...

The external ear develops from an organized convergence of ventrally migrating neural crest cells into the first and second branchial arches. Defects in external ear position are often symptomatic of complex syndromes such as Apert, Treacher-Collins, and Crouzon Syndrome. The low set ears (Lse) spontaneous mouse mutant is characterized by the dominant inheritance of a ventrally shifted external ear position and an abnormal external auditory meatus (EAM). We identified the causative mutation as a 148 Kb tandem duplication on Chromosome 7, which includes the entire coding sequences of Fgf3 and Fgf4...

The new EU Council Recommendation on cancer screening extends organized mammography screening to the 45-74-year age group. Mammography screening in young women has been the subject of discussion since its inception almost forty years ago. Starting from the recent publication of the survival data for breast cancer of the regional programme for women aged 45-49 years, activated in the Emilia-Romagna Region (Northern Italy), it is here proposed to test, with a research and innovation practice, a new screening offer for the 45-54-year age group with a tailored approach, i...

BACKGROUND: Various surgical techniques for cranial reconstruction of patients with bicoronal synostosis have been suggested. The outcome is, however, still often suboptimal. METHODS: In a 5-month-old child with apert syndrome, following a craniotomy incision, lambdoid suturotomy was done bilaterally. Two springs were implanted bilaterally over the lambdoid sutures. Cephalic index was obtained from three-dimensional computed tomography scans, and photographs were analyzed for aesthetic evaluation...

Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection...

Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported...