Atlantooccipital Assimilation and Basilar Invagination Treated Successfully in a Young Male With Marfanoid Features: A Stich in Time

Mahajan, Satish M.; Talwar, Dhruv; Kumar, Sunil; Acharya, Sourya; Iratwar, Sandeep; Annadatha, Akhilesh

doi:10.7759/cureus.19365

Cited by 6 publications

(7 citation statements)

References 11 publications

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“…KFS can also be associated with Treacher Collins syndrome, which consists of facial dysmorphism of pharyngeal arches causing malformation of dentofacial features and ultimately leading to feeding difficulty [9]. KFS is distinguished from Marfan syndrome, where the latter presents with a fusion of the atlantooccipital joint and may have a short neck with restricted neck movements and, hence, needs to be distinguished in radiological studies [10]. There is a possibility of missing the diagnosis because of the absence of other associated syndromes and can be misdiagnosed as the presentations of facial dysmorphism may be confused with the other syndromic facies.…”

Section: Discussionmentioning

confidence: 99%

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Patil,

Jain,

Kumar

et al. 2024

Cureus

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Klippel-Feil syndrome (KFS) is a triad comprising cervical spine fusion, a low posterior hairline, and constrained neck movement. This triad is not universally present. The most frequent accompaniment is Sprengel's scapula deformity. According to the Feil classification, Class 1 (C1) is an immense fusion of many cervical vertebrae, Class 2 (C2) is a fusion of one or two vertebrae only, and Class 3 (C3) is coupled with thoracic and lumbar spinal vertebral fusion in addition to the fusion of the cervical vertebrae. Clarke's categorization of KFS includes other associated anomalies. The different classification systems for KFS have been made by the different specialists to whom patients may present, which include orthopedic surgeons, neurosurgeons, orthodontists, faciomaxillary surgeons, cardiologists, and pediatricians. This anomaly being rare and the lack of universally accepted classification may lead to confusion regarding the identification of the syndrome, especially the Clarke Type 3 with isolated facial dysmorphism may go undiagnosed. We report a case with KFS-Clarke Type 3 with isolated facial dysmorphism and Feil Type 2 with the fusion of C2-C3 cervical vertebrae, detected as an incidental radiologic finding, and initial impression of adenoid facies. Hence, this case also highlights the contrasting features between the facial dysmorphism of Clarke Type 3 KFS and adenoid facies.

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Section: Discussionmentioning

confidence: 99%

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Patil,

Jain,

Kumar

et al. 2024

Cureus

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“…The first therapy choice for adult cryptorchidism should be orchiectomy if there are no significant psychological or aesthetic factors. (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) Infertility, testicular cancer, and mental discomfort are all linked to true cryptorchidism. The chance of developing cancer is reduced to normal if the disease is treated by age 10.…”

Section: Discussionmentioning

confidence: 99%

Case Report on Cryptorchidism with Small Penis Since Birth

2022

pnr

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Background: Male sex glands that produce sperm and sex hormones are known as testicles (testes). Both testicles are usually found in the scrotum. Undescended testicle (UDT), also known as cryptorchidism, is a frequent reason for young males to be referred for urologic evaluation. The genitourinary tract is affected, and it is the most typical congenital defect. A 10-year-old male child is presented with a history of undescended testes with a small penis since birth. As per the narration of the parents, the child was born through full-term normal vaginal delivery with a birth weight of 3.2 kg. He was normally growing with the age but they came to know that the child's penis is not growing as per age. On Physical Examination, abnormalities occur in the genital region. The non-palpable testicle was found along with the micropenis. Initially, the child is treated with hormonal therapy including Human Chorionic gonadotropin and the luteinizing hormone are given for 8 days. Orchiopexy is performed under general anesthesia by surgeons. A common condition in the pediatric population is cryptorchidism, which is characterized as the absence of at least one testis in the scrotum. Compared to the general population, patients with cryptorchids have a relative risk of testicular cancer that is approximately five times higher.

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“…The people should be provided with the psycho education and should be aware of the various psychiatric diseases. In my client's case the environmental factors and domestic violence by the husband and lack of knowledge about the disorder are major factors [19][20][21][22][23][24].…”

Section: Discussionmentioning

confidence: 99%

Paranoid Schizophrenia Secondary to Physical and Emotional Abuse by Spouse: A Case Report

Abhilash¹

2022

Journal of Pharmaceutical Negative Results

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Schizophrenia, which is distinguished by psychotic symptoms and frequently leads to social and vocational decline, persists to be a challenge in terms of its aetiology and treatment. Physical and emotional abuse from the partner can lead to paranoid schizophrenia. Paranoid schizophrenia patient shows disturbed thought process due to several causative agents such as chemical and structural dysfunction and environmental influences. Further patient have poor insight, experience disorder of thought and have negative symptoms. A 32 year old female patient was brought to psychiatric department by her mother with the presenting complaints of acute symptoms which include delusion of percussion, delusion of reference, delusion of infidelity, auditory hallucination, suspicious behavior and restlessness. Prior to the current situation patient have taken I week of treatment and visit the psychiatrist for follow up. Clinical features and mental status examination met the criteria for paranoid schizophrenia and administration of antipsychotics to the patient. The client was under the observation for 1 week. The drug therapy was helpful to the client. The course of the disorder in the client was ‘episodic with stable deficit’. The symptoms of the client were reduced and she was stable.

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Atlantooccipital Assimilation and Basilar Invagination Treated Successfully in a Young Male With Marfanoid Features: A Stich in Time

Cited by 6 publications

References 11 publications

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Case Report on Cryptorchidism with Small Penis Since Birth

Paranoid Schizophrenia Secondary to Physical and Emotional Abuse by Spouse: A Case Report

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