scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals Apert syndrome: a case report

2015 ◽  
Vol 04 (03) ◽  
pp. 145-148
Author(s):  
Barman A. ◽  
Dutta BC ◽  
Sarkar JK
Keyword(s):  
Rare Condition ◽  
Open Bite ◽  
Apert Syndrome ◽  
Anterior Open Bite ◽  
Maxillary Hypoplasia ◽  
X Ray ◽  
Fgfr2 Gene ◽  
History Of ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births. A three year old boy was brought with a history of facial, hand and feet deformities to the Pediatrics out patient department. On examination, he had symmetric syndactyly of the hands and feet. He also had craniosynostosis with deformed skull. This patient also exhibited midface hypoplasia, exophthahnia, ocular hypertelorism and high arch palate. Crowding of the teeth, malocclusion with anterior open bite is also found. The X-ray of the hand and feet showed skeletal fusion of phalanges (complex syndactyly). The case represents a rare condition where there is a mutation in the FGFR2 gene causing Apert syndrome.

scholarly journals Apert syndrome: Diagnostic and management problems in a resource-limited country

2019 ◽  
Vol 11 (4) ◽  
Author(s):  
Makoura Barro ◽  
Yahaya S. Ouedraogo ◽  
Fatimata S. Nacro ◽  
Bintou Sanogo ◽  
Solange O. Kombasséré ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Choanal Atresia ◽  
University Hospital ◽  
Apert Syndrome ◽  
Psychomotor Development ◽  
Cardiac Ultrasound ◽  
Resource Limited ◽  
Craniofacial Dysmorphism ◽  
Rubella Serology ◽  
Hands And Feet

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.

scholarly journals An Infant with Apert Syndrome and Tetralogy of Fallot for Craniosynostosis Correction: Anesthetic Challenges

2019 ◽  
Author(s):  
Karen R. Lionel ◽  
Satish K. Sundararajan ◽  
Ranjith K. Moorthy ◽  
Ramamani Mariappan
Keyword(s):  
Tetralogy Of Fallot ◽  
Autosomal Dominant ◽  
Air Embolism ◽  
Massive Bleeding ◽  
Apert Syndrome ◽  
Craniofacial Anomalies ◽  
Autosomal Dominant Disorder ◽  
Venous Air Embolism ◽  
Congenital Cardiac Anomalies ◽  
Hands And Feet

AbstractApert syndrome (AS) is an autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of hands and feet. Ten percent children with AS can have associated congenital cardiac anomalies. Association of complex cyanotic heart disease with craniosynostosis is very rare. So far, only one case has been reported in the literature. The craniosynostosis corrective surgery is associated with the risk of massive bleeding or venous air embolism, which can cause paradoxical air embolism and precipitate cyanotic spell, which makes the anesthesia more challenging. In this report, we present the anesthetic challenges of an 8-month-old infant with AS and tetralogy of Fallot for craniosynostosis correction.

scholarly journals Oral findings in patients with Apert Syndrome

2006 ◽  
Vol 14 (6) ◽  
pp. 465-469 ◽  
Author(s):  
Gisele da Silva Dalben ◽  
Lucimara Teixeira das Neves ◽  
Marcia Ribeiro Gomide
Keyword(s):  
Apert Syndrome ◽  
Radiographic Examination ◽  
Class Iii ◽  
Dental Anomalies ◽  
Ectopic Eruption ◽  
Fgfr2 Gene ◽  
High Prevalence ◽  
Ocular Hypertelorism ◽  
Tissue Alterations ◽  
Etiologic Relationship

INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

Prenatal diagnosis of Apert syndrome

2018 ◽  
Author(s):  
N.P. Veropotvelyan , D.I. Laylo , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Other ◽  
Lower Limbs ◽  
Apert Syndrome ◽  
Type I ◽  
Autosomal Dominant Disorder ◽  
Nasal Bridge ◽  
Skull Shape

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

scholarly journals Apert syndrome: prenatal diagnosis challenge

2019 ◽  
Vol 12 (12) ◽  
pp. e231982 ◽  
Author(s):  
Catarina Vieira ◽  
Neusa Teixeira ◽  
Alexandra Cadilhe ◽  
Isabel Reis
Keyword(s):  
Genetic Disorder ◽  
Growth Factor Receptor ◽  
Apert Syndrome ◽  
Cranial Morphology ◽  
Family Counselling ◽  
Medical Termination ◽  
Fgfr2 Gene ◽  
Prenatal Management ◽  
Almost All ◽  
The Impact

Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.

scholarly journals Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

2015 ◽  
pp. 150-153 ◽  
Author(s):  
Lilian Torres ◽  
Guaberto Yesid Hernández Acevedo ◽  
Alejandro Barrera ◽  
Sandra Ospina ◽  
Rolando Prada
Keyword(s):  
Growth Factor ◽  
Fibroblast Growth Factor ◽  
Clinical Features ◽  
Fibroblast Growth Factor Receptor ◽  
Index Case ◽  
Growth Factor Receptor ◽  
Sequence Variant ◽  
Fibroblast Growth ◽  
Fgfr2 Gene ◽  
Hands And Feet

Introduction:Apert syndrome (AS) is a craniosynostosis conditioncaused by mutations in the Fibroblast Growth Factor Receptor 2(FGFR2) gene. Clinical features include cutaneous and osseoussymmetric syndactily in hands and feet, with variable presentations inbones, brain, skin and other internal organs.Methods:Members of two families with an index case of ApertSyndrome were assessed to describe relevant clinical features andmolecular analysis (sequencing and amplification) of exons 8, 9 and10 of FGFR2 gen.Results: Family 1 consists of the mother, the index case and half-brother who has a cleft lip and palate. In this family we found asingle FGFR2 mutation, S252W, in the sequence of exon 8. Althoughmutations were not found in the study of the patient affected with cleftlip and palate, it is known that these diseases share signaling pathways,allowing suspected alterations in shared genes. In the patient of family2, we found a sequence variant T78.501A located near the splicingsite, which could interfere in this process, and consequently with theprotein function

scholarly journals Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome

2019 ◽  
Vol 7 (1) ◽  
pp. 212
Author(s):  
Arnab Nandy ◽  
Sankar K. Das ◽  
Sumit Roy ◽  
Shreyasi Das
Keyword(s):  
Connective Tissue ◽  
Male Infant ◽  
Connective Tissue Disorder ◽  
Normal Male ◽  
Missense Mutations ◽  
Craniofacial Dysmorphism ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Male Karyotype ◽  
Case Characteristics

Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen.

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