Surgical Technique for Complex Syndactyly in Apert Syndrome : A Serial Case

Abstract: Complex syndactyly in Apert syndrome, especially complicated with synonychia and synostosis, is a surgical challenge. The incidence of Apert Syndrome is reported to be approximately 1 per 100.000 to 160.000 live births and its incidence in Indonesia is not yet known. It is practically symmetrical causing significant dysfunction and infection if not treated properly. The goals in the treatment are separation of independent digits without disturbing function and growth, creation of a lined commissure, provision of skin cover for the denuded nail edge and exposed bone, and to create aesthetically pleasing individual fingertips with proper nails, nail folds and adequate pulp fullness. Many variations of surgical release of the first web space and of the remaining syndactyly have been described. Various approaches to the bony deformity of the thumb have also been described. All previously described techniques advocate releasing a single side of a digit at any given surgery to maintain the vascularity of that digit. This is due to the unreliability of the vascular branching pattern to the digits. In this serial case, we reported 5 cases of Apert syndrome. We described the clinical findings, incision design, immediate and post-surgery follow ups. The results were uneventful, with satisfying function and aesthetic appearance.

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Unilateral Coronal Craniosynostosis in an Apert-Like Patient

Plastic Surgery ◽

10.1177/2292550318800322 ◽

2018 ◽

Vol 27 (1) ◽

pp. 78-82

Author(s):

Navid Pourtaheri ◽

Derek Z. Wang ◽

Robert P. Lesko ◽

Christopher M. Bonfield ◽

Peter Taub ◽

...

Keyword(s):

Case Report ◽

Computerized Tomography ◽

Apert Syndrome ◽

Coronal Suture ◽

Anterior Fontanelle ◽

Head Shape ◽

The Third ◽

Web Space ◽

Hands And Feet ◽

Surgical Release

Background and Significance: Apert syndrome is a congenital disorder of patients who typically present with bilateral coronal craniosynostosis and varying degrees of complex syndactyly of the hands and feet, among other features. We describe a unique presentation of a rare Apert-like patient with unilateral coronal craniosynostosis and complex syndactyly of the hands and feet. Case Report: A 2-year-old male patient presented to the craniofacial clinic with his mother due to a concerning head shape. The patient also had bilateral syndactyly of the hands and feet and underwent prior surgical release of the third web space. Computerized tomography of the head illustrated a small open anterior fontanelle, a left harlequin orbit, complete left coronal craniosynostosis, and a patent right coronal suture. The patient subsequently underwent fronto-orbital advancement for expansion of the cranial vault and correction of the asymmetric forehead and orbit. The procedure resulted in improvement of his deformity. Conclusion: This case illustrates a unique presentation of an acrocephalosyndactyly (ACS) syndrome with asymmetric, unilateral coronal craniosynostosis and complete complex syndactyly of the hands and feet that is most consistent with Apert syndrome. Although the majority of patients with ACS can be categorized into known syndromes, other more unusual presentations must still be considered. Such unique cases are exceedingly rare and only through additional reporting and review of unique phenotypes can new subtypes of common ACS syndromes be classified.

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Monozygotic Twins with Apert Syndrome

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-149.1 ◽

2008 ◽

Vol 45 (1) ◽

pp. 101-104 ◽

Cited By ~ 8

Author(s):

Corstiaan C. Breugem ◽

Donald F. Fitzpatrick ◽

Cynthia Verchere

Keyword(s):

English Literature ◽

Point Mutations ◽

Monozygotic Twins ◽

Growth Factor Receptor ◽

Clinical Findings ◽

Apert Syndrome ◽

Normal Children ◽

Metopic Synostosis ◽

Metopic Suture ◽

New Mutations

Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are sporadic, resulting from new mutations. Although there have been some descriptions of familial Apert syndrome, we could find only one previous description in the English literature about twinning in Apert syndrome. This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children.

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Prune-belly syndrome

Paediatrica Indonesiana ◽

10.14238/pi49.5.2009.304-8 ◽

2009 ◽

Vol 49 (5) ◽

pp. 304

Author(s):

Yenny Yenny ◽

Kusuma P. A ◽

Damanik M. P.

Keyword(s):

Congenital Anomaly ◽

Prognostic Factors ◽

Urinary Tract ◽

Pulmonary Hypoplasia ◽

Clinical Findings ◽

Prune Belly Syndrome ◽

Live Births ◽

Prune Belly ◽

Clinical Variants ◽

Urinary Tract Anomalies

Prune-belly syndrome, also known as Eagle-Barretsyndrome, is a congenital anomaly comprisingthree clinical findings: deficient abdominalmusculature, urinary tract anomalies, andbilateral cryptorchidism. Other clinical findings involvingrespiratory, skeletal, digestion and cardiovascular systemmay also accompany the syndrome. The incidence isapproximately 1 : 30,000 to 40,000 live births and 95%of cases occur in boys. Pulmonary hypoplasia and kidneyfailure are important prognostic factors that contributeto 60% of mortality rate. Treatment includes surgicalcorrection of the abdominal wall and urinary tract,orchidopexy and other supportive managements.l-4 Wereport 4 cases on typical Prune-belly syndrome, togetherwith other clinical variants.

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Genetic testing for ocular coloboma

The EuroBiotech Journal ◽

10.24190/issn2564-615x/2017/s1.09 ◽

2017 ◽

Vol 1 (s1) ◽

pp. 29-31 ◽

Cited By ~ 4

Author(s):

Andi Abeshi ◽

Carla Marinelli ◽

Tommaso Beccari ◽

Munis Dundar ◽

Leonardo Colombo ◽

...

Keyword(s):

Genetic Testing ◽

Clinical Utility ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Scientific Literature ◽

Genetic Test ◽

Clinical Findings ◽

Fundus Examination ◽

Live Births ◽

Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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Care of the fetus/newborn with congenital diaphragmatic hernia

Fetal and Maternal Medicine Review ◽

10.1017/s0965539500001017 ◽

1994 ◽

Vol 6 (2) ◽

pp. 81-94 ◽

Cited By ~ 1

Author(s):

Duncan T Wilcox ◽

Hratch L Karamanoukian ◽

Philip L Glick

Keyword(s):

Congenital Diaphragmatic Hernia ◽

Diaphragmatic Hernia ◽

Lung Development ◽

Pulmonary Hypoplasia ◽

Thoracic Cavity ◽

Live Births ◽

Surfactant System ◽

Vascular Branching

Congenital diaphragmatic hernia (CDH) is a simple anatomical defect. The reported incidence is between 1:2000 and 1:5000 live births, with the majority affecting the left side. A defect in the diaphragm allows abdominal viscera to herniate into and stay within the thoracic cavity during crucial stages of lung development. This results in pulmonary hypoplasia, a reduction in pulmonary vascular branching and an alteration in the surfactant system.

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Recém-nascidos com risco de toxoplasmose congênita, revisão de 16 anos

Scientia Medica ◽

10.15448/1980-6108.2018.4.32169 ◽

2018 ◽

Vol 28 (4) ◽

pp. 32169

Author(s):

Joana Verdelho Andrade ◽

Catarina Resende ◽

Joana Campos ◽

Cristina Batista ◽

Cristina Faria ◽

...

Keyword(s):

Pregnant Women ◽

Vertical Transmission ◽

Statistical Significance ◽

Clinical Manifestations ◽

Congenital Toxoplasmosis ◽

Clinical Findings ◽

Second Trimester ◽

Cerebral Lesions ◽

Cross Sectional ◽

Live Births

AIMS: To analyze the data on pregnancies with risk of congenital toxoplasmosis and to investigate the newborns' outcome, in a level II hospital in Portugal.METHODS: A cross-sectional retrospective study included newborns at risk for congenital toxoplasmosis and their mothers, whose delivery occurred between January 2000 and December 2015. The inclusion criteria were mother with seroconversion to toxoplasmosis during pregnancy or first serum sample with positive specific IgM and IgG. The diagnosis of congenital toxoplasmosis was defined by positive specific IgM at birth and/or polymerase chain reaction positive in amniotic fluid and/or persistence of specific IgG up to 12 months of life. Congenital toxoplasmosis was defined as symptomatic when clinical findings were attributed to the disease. Chi-square or Fisher's exact tests were used to test associations between variables, assuming statistical significance when p <0.05.RESULTS: There were 39,585 live births in the study period and 98 cases with risk of congenital toxoplasmosis were identified, of which 89 completed the follow-up. The prevalence of anti-T. gondii IgG in the pregnant women was 26% (95% confidence interval [CI] 24-27%). Twenty-two cases of congenital toxoplasmosis (5.6 per 10,000 live births, 95%CI 3.5-8.5 per 10,000) were confirmed. Of the 22 newborns, 18 (82%, 95%CI 61-93%) were symptomatic. The most frequent clinical findings were intracranial calcification (64%), hepatomegaly and / or elevation of transaminases (32%) and retinochoroiditis (14%). Cerebral lesions were more frequent when maternal infection was documented in the first and second trimester compared to the third trimester (p=0.018). In 31 cases (35%), the pregnant women were treated from the time of diagnosis until delivery with spiramycin, and no differences were found regarding the rate of vertical transmission or the appearance of clinical manifestations among the newborns of treated and non-treated mothers treated.CONCLUSIONS: The prevalence of congenital toxoplasmosis was higher than that reported in other European countries. The prevalence of intracranial calcifications was higher than that described in the literature, whereas retinochoroiditis and strabismus occurrence was lower. Brain lesions in newborns were more frequent in first- and second-trimester infections. There was no difference in the rate of vertical transmission and in the occurrence of clinical manifestations among newborns whose mothers received spiramycin during gestation and those whose mothers did not receive treatment.

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Characteristics of Congenital Clasped Thumb: A Case Report and Literature Review

Frontiers in Pediatrics ◽

10.3389/fped.2021.638059 ◽

2021 ◽

Vol 9 ◽

Author(s):

Sungmin Kim ◽

Woo Kyoung Kwak ◽

Sung Taek Jung

Keyword(s):

Congenital Abnormalities ◽

Stress Test ◽

Metacarpophalangeal Joint ◽

Flexor Pollicis Longus ◽

Flexion Deformity ◽

Complex Type ◽

Post Surgery ◽

Web Space ◽

The Right

Congenital clasped thumb is a progressive flexion and adduction deformity presenting with heterogeneous congenital abnormalities and syndromes. This deformity is usually accompanied by first web space narrowing and metacarpophalangeal joint (MPJ) laxity. Understanding the various features of the clasped thumb and making an accurate diagnosis is essential for treatment. Depending on the classification, treatment can vary from conservative to surgical. We describe the case of a bilateral clasped thumb with various characteristics, which were treated differently according to the disease type. The deformity of the clasped thumb was bilateral, and the patient had MPJ flexion deformity, flexor pollicis longus shortening, first web space narrowing, and MPJ instability, which were confirmed through a stress test. The left thumb was a complex type and was surgically treated, whereas, the right thumb was a flexible type, which was treated with splinting; the treatment showed promising results at 2 years post surgery. Diagnosis of the clasped thumb through thorough history taking, physical examination and considering its characteristics, and appropriate classification of the disease is essential for treatment. Furthermore, a stress test can identify MPJ instability in the congenital clasped thumb.

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CLINICAL FINDINGS OF 2-MONTHS-OLD BABY WITH APERT SYNDROME: A RARE CASE REPORT

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v3i12.752 ◽

2019 ◽

Vol 3 (12) ◽

Author(s):

Giovanni Reynaldo ◽

Audrey Desiree ◽

Alfonso Tjakra

Keyword(s):

Multidisciplinary Approach ◽

Congenital Abnormalities ◽

Clinical Findings ◽

Paternal Age ◽

Apert Syndrome ◽

Palpebral Fissure ◽

Shortness Of Breath ◽

Rare Congenital Disorder ◽

Rare Case Report ◽

Nutrition Intake

Apert Syndrome is a rare congenital disorder characterized by a premature sutural fusion that can occur as a single abnormality or associated with other anomalies. Mutations are transmitted in the paternal chromosome, which is why advanced paternal age could be a risk factor. We report a 2-months old baby boy came to the ER with shortness of breath and difficulty in nutrition intake caused by choking at home. Physical examination revealed there was more than one congenital abnormalities exist on this patient, including craniosynostosis, prominent frontal region, mid-face hypoplasia, wide set eyes (hypertelorism), downslanting palpebral fissure, ocular proptosis, low-set ears, dysplasia of both ears, symmetrical syndactyly of both fingers and toes, and cleft palate which is revealed in intra-oral examination. Early diagnosis and intervention from multidisciplinary approach is important in improving the outcome of Apert Syndrome. Keywords: Apert Syndrome, Craniosynostosis, paternal, multidisciplinary

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CERVICAL CERCLAGE;

The Professional Medical Journal ◽

10.29309/tpmj/2019.26.05.3491 ◽

2019 ◽

Vol 26 (05) ◽

Author(s):

Uzma Manzoor ◽

Uzma Shahzad ◽

Nadia Sharif ◽

Sadia Bano ◽

Raheela Farhat ◽

...

Keyword(s):

Gestational Age ◽

Normal Pregnancy ◽

Fetal Outcome ◽

Clinical Findings ◽

Cervical Cerclage ◽

Trimester Abortion ◽

Live Births ◽

Fetal Survival ◽

Cervical Incompetence ◽

Gestational Age At Delivery

Introduction: In Pakistan, cervical incompetence has been recognized as the leading cause of recurrent abortions in mid trimester. The elective cerclage based on history and clinical findings applied in second trimester overcomes the risk of emergency procedure. This problem is quite common in patients visiting IUH Faisalabad. Objectives: Assess gestational age at delivery after elective cervical cerclage application in mothers with recurrent mid trimester abortions. List the immediate and late complications of cerclage. Assess the fetal outcome after cerclage. Outcome Measures: 1. Percentage of mid trimester abortion in current pregnancy. 2. Frequency of prolongation of gestational age at delivery. 3. Complications of the procedure. 4. Birth weight of the baby. 5. Percentage of live births. 6. Fetal survival rate. Study Design: Interventional: Quasi experimental study. Setting: Department of Obstetrics and Gynaecology, Teaching Hospital IUH FSD. Period: Oct 2016 to July 2018. Subjects: Fifty patients with recurrent mid trimester miscarriage due to cervical incompetence. Methods: Patients were admitted through outdoor with history of previous mid trimester abortions possibly due to cervical incompetence. USG evidence of normal pregnancy with no obvious congenital anomaly was a pre requisite for cervical cercalge. Technique used was MCDonald’s suture under general anaesthesia. Results: Effectiveness of cerclage was 90%; 78% had term deliveries, 12% preterm delivery and 5 spontaneous mid trimester abortions. There were 81% live births. The complications included cervical trauma after delivery (2%), spontaneous abortions (10%), pre term delivery (13%) and pre prom (2%). Conclusion: Elective cerclage at 12-14 wks of gestation in recurrent mid trimester abortions results in good fetomaternal outcome with almost no complications.

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Craniosynostosis Syndromes

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0023 ◽

2018 ◽

pp. 829-856

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Bone Dysplasia ◽

Clinical Findings ◽

Differential Diagnoses ◽

Apert Syndrome ◽

Radiographic Features ◽

Pfeiffer Syndrome ◽

Carpenter Syndrome ◽

Muenke Syndrome

This chapter discusses craniosynostosis syndromes and includes discussion on Apert syndrome, Pfeiffer syndrome, Antley-Bixler syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Muenke syndrome, and bent bone dysplasia-FGFR2 type. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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