Apert Syndrome: Case Series and Review of The Literature

Summary: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristic from the phenotypic manifestations only. We present cases of 6-years-old male, 2-years-old female, and 3-years-old female, respectively, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnostic of Apert Syndrome.

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Differential diagnosis of syndromic craniosynostosis: a case series

Archives of Gynecology and Obstetrics ◽

10.1007/s00404-021-06263-9 ◽

2021 ◽

Author(s):

Tamara Casteleyn ◽

Denise Horn ◽

Wolfgang Henrich ◽

Stefan Verlohren

Keyword(s):

Mode Of Delivery ◽

Case Series ◽

Fetal Mri ◽

Apert Syndrome ◽

Syndromic Craniosynostosis ◽

Greig Cephalopolysyndactyly Syndrome ◽

Mri Scans ◽

Perinatal Center ◽

Associated Malformations ◽

Suspected Diagnosis

Abstract Purpose Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. Methods We identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures. Results Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations. Conclusion Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

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Amiodarone-Induced Thyrotoxicosis and Thyroid Cancer: Clinical, Immunohistochemical, and Molecular Genetic Studies of a Case and Review of the Literature

Archives of Pathology & Laboratory Medicine ◽

10.5858/2004-128-807-atatcc ◽

2004 ◽

Vol 128 (7) ◽

pp. 807-810 ◽

Cited By ~ 3

Author(s):

Aly Saad ◽

Mercedes Falciglia ◽

David L. Steward ◽

Yuri E. Nikiforov

Keyword(s):

Thyroid Cancer ◽

Molecular Genetic ◽

Papillary Thyroid ◽

Review Of The Literature ◽

Genetic Studies ◽

Hormone Synthesis ◽

Histologic Pattern ◽

Amiodarone Treatment

Abstract Amiodarone-induced thyrotoxicosis (AIT) is a well-known complication of amiodarone treatment found in 3% to 12% of patients. Two types of AIT have been described, each associated with a distinct histologic pattern of thyroid involvement. Type 1, which typically develops in the background of pre-existing thyroid disease, is due to iodine-induced excess thyroid hormone synthesis, whereas type 2 is due to destructive thyroiditis. The prevalence of thyroid cancer in patients with AIT is unknown. We report a case of papillary thyroid carcinoma associated with type 2 AIT.

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Apert syndrome: A dermatologist’s perspective

10.25259/csdm_64_2021 ◽

2021 ◽

Vol 1 ◽

pp. 66

Author(s):

Nidhi Kamra ◽

Ankita Tuknayat

Keyword(s):

Clinical Features ◽

Literature Search ◽

The Body ◽

Apert Syndrome ◽

Rare Entity ◽

Electronic Database ◽

Craniofacial Malformations ◽

Hands And Feet

Apert syndrome is a Type 1 acrocephalosyndactyly syndrome presenting predominantly with craniofacial malformations and syndactyly. It can present with a multitude of clinical features involving any system of the body. A literature search of the PubMed electronic database was performed using the keywords “Apert syndrome” and “dermatology” in the title. The relevant references of the included articles were traced and included. A total of 27 articles appeared, the abstracts of which were screened and reviewed by both the authors independently for inclusion. After carefully analyzing all papers case by case, 21 such cases were retrieved. Cases presenting with other clinical features apart from dermatological features were also reviewed but were not included in the table. A total of about 30 patients of Apert syndrome have been described in dermatological literature, acne being the most common dermatological manifestation. Predominant clinical features in all the cases were brachycephaly due to craniosynostosis and syndactyly of hands and feet. Most of the patients had skeletal, dental, gastrointestinal, genitourinary, respiratory, cardiovascular, and dermatological manifestations in varying proportions. Apert syndrome is a rare entity which can present to a dermatologist. It is, therefore, pertinent to be able to diagnose and recognize the various clinical features of this syndrome to ensure timely management of such patients.

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A Novel Homozygous USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature

10.21203/rs.3.rs-762230/v1 ◽

2021 ◽

Author(s):

ALPER GEZDIRICI ◽

ÖZLEM KALAYCIK ŞENGÜL ◽

MUSTAFA DOĞAN ◽

BANU YILMAZ ÖZGÜVEN ◽

EKREM AKBULUT

Keyword(s):

Amino Acids ◽

Splice Variant ◽

Tertiary Structure ◽

Stop Codon ◽

Molecular Genetic ◽

Autosomal Recessive Inheritance ◽

Clinical Findings ◽

Review Of The Literature ◽

Whole Exome ◽

Exon 1

Abstract Background: Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers a useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in USP53 have recently been reported in cholestasis phenotype. In this study we aim to characterize clinical findings and biological insights on a novel USP53 splice variant causing cholestasis phenotype and review of the literature. Methods and Results: We reported a novel splice variant (NM_019050.2:c.238-1G>C) in the USP53 gene via whole exome sequencing in a patient with cholestasis phenotype. This variant was confirmed by sanger sequencing and as a result of family segregation analysis; it was found to be a heterozygous state in the parents and the other healthy elder brother of our patient. According to in-silico analyses; the change in the splice region resulted in an increase in the length of exon 1, whereas the stop codon after the additional 3 amino acids (VTF) caused the protein to terminate prematurely. Thus, the mature USP53 protein, consisting of 1.073 amino acids, has been reduced to a small protein of 82 amino acids.Conclusions: We propose a model for the tertiary structure of USP53 for the first time, together with all these data, we support the association of biallelic variants of the USP53 gene with the cholestasis phenotype. We also presented a comparison of previously reported patients with the USP53-associated cholestasis phenotype to contribute to the literature.

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Coccidioidomycosis in Nonhuman Primates: Pathologic and Clinical Findings

Veterinary Pathology ◽

10.1177/0300985818787306 ◽

2018 ◽

Vol 55 (6) ◽

pp. 905-915 ◽

Cited By ~ 1

Author(s):

Keith Koistinen ◽

Lisa Mullaney ◽

Todd Bell ◽

Sherif Zaki ◽

Aysegul Nalca ◽

...

Keyword(s):

Vertebral Column ◽

Nonhuman Primates ◽

Case Series ◽

Granulomatous Inflammation ◽

Clinical Findings ◽

Review Of The Literature ◽

Endemic Region ◽

Cutaneous Infections ◽

Abdominal Organs ◽

Disseminated Disease

Coccidioidomycosis in nonhuman primates has been sporadically reported in the literature. This study describes 22 cases of coccidioidomycosis in nonhuman primates within an endemic region, and 79 cases of coccidioidomycosis from the veterinary literature are also reviewed. The 22 cases included baboons ( n = 10), macaques ( n = 9), and chimpanzees ( n = 3). The majority died or were euthanized following episodes of dyspnea, lethargy, or neurologic and locomotion abnormalities. The lungs were most frequently involved followed by the vertebral column and abdominal organs. Microscopic examination revealed granulomatous inflammation accompanied by fungal spherules variably undergoing endosporulation. Baboons represented a large number of cases presented here and had a unique presentation with lesions in bone or thoracic organs, but none had both intrathoracic and extrathoracic lesions. Although noted in 3 cases in the literature, cutaneous infections were not observed among the 22 contemporaneous cases. Similarly, subclinical infections were only rarely observed (2 cases). This case series and review of the literature illustrates that coccidioidomycosis in nonhuman primates reflects human disease with a varied spectrum of presentations from localized lesions to disseminated disease.

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Congenital Conductive Hearing Loss in Apert Syndrome

Otolaryngology ◽

10.1177/019459988609500402 ◽

1986 ◽

Vol 95 (4) ◽

pp. 429-433 ◽

Cited By ~ 16

Author(s):

Susan G. Phillips ◽

Richard T. Miyamoto

Keyword(s):

Hearing Loss ◽

Otitis Media ◽

Conductive Hearing Loss ◽

Otitis Media With Effusion ◽

Apert Syndrome ◽

Review Of The Literature ◽

Stapes Fixation ◽

The Third ◽

Hands And Feet ◽

Conductive Hearing

Acrocephalosyndactyly (Apert syndrome) is a rare cranlosynostotic syndrome characterized by acrocephaly, syndactyly of the hands and feet, and—occasionally—-conductive hearing loss. We report three cases of conductive hearing loss in Apert syndrome. One patient was found to have bilateral stapes fixation. His daughter (the second case) had chronic bilateral otitis media with effusion. The third case involved a fixed Incus and hypomobile stapes. The management of these patients and a review of the literature are presented.

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SKULL TRAUMA AS ONE OF THE CAUSES FOR SUBDURAL HEMATOMA DEVELOPMENT IN AN INFANT WITH GLUTARIC ACIDURIA TYPE 1: A BRIEF REVIEW OF THE LITERATURE AND CLINICAL OBSERVATION

PEDIATRIA Journal named after G N SPERANSKY ◽

10.24110/0031-403x-2021-100-1-287-293 ◽

2021 ◽

Vol 100 (1) ◽

pp. 287-293

Author(s):

Z.G. Tadtaeva ◽

◽

A.N. Galustyan ◽

O.A. Gromova ◽

P.A. Popov ◽

...

Keyword(s):

Clinical Observation ◽

Brain Mri ◽

Molecular Genetic ◽

Genetic Research ◽

Glutaric Aciduria Type ◽

Review Of The Literature ◽

Glutaric Aciduria Type 1 ◽

Glutaric Aciduria ◽

Subdural Hematomas

The article presents a brief review of the literature and clinical observation of glutaric aciduria type 1 (GA1) in a child, manifested by encephalitis-like crisis and subdural hematomas, which were initially regarded as the consequences of traumatic brain injury. Based on the analysis of clinical and neuroimaging data, the diagnosis of GA1 was assumed, which was later confirmed by molecular genetic research. After therapy with the inclusion of a specialized diet with protein restriction, some improvement in motor activity was noted. The presence of bilateral subdural hematomas dictates the need for differential diagnosis with GA1. A highly informative method of diagnosing GA1 is brain MRI.

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