Congenital midline cervical cleft (CMCC) is a rare developmental defect of the anterior neck normally characterized by an atrophic mucosal plaque with a cranial nipple-like skin tag, a short caudal sinus, and may be attached to a subcutaneous fibrous cord of variable length. Clinically, patients present at an early age with, white females being the most commonly affected population. In addition to aesthetic concerns, CMCC can prevent full extension of the neck, result in micrognathia and torticollis, predispose patients to infection, and can coexist with other clefting defects or cysts. Fewer than 50 cases have been published in the English-language literature. Herein, we report a case of CMCC that also presented with a mild contracture of the right sternohyoid muscle. The embryopathogenesis, histopathology, diagnosis, and treatment of this rare condition are also discussed.
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http://dx.doi.org/10.1097/SCS.0b013e318241db99 | DOI Listing |
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.
Background: Cases of congenital disorders of glycosylation (CDGs) are rare, and the occurrence of hemorrhagic infarction is also rare. The etiology is unclear.
Observations: A 3-year-old Asian boy with CDG type 1A was hospitalized with pneumonia.
J Sex Med
January 2025
Department of Urology, Holmesglen Private Hospital, Moorabbin 3189, Victoria, Australia.
Background: The penile suspensory ligament (PSL) plays a significant role in penile support and erection and its injury or congenital absence may result in functional impairment of erectile function.
Aim: To describe the diagnosis and surgical repair technique for PSL abnormalities and overall outcomes.
Methods: A comprehensive review of the literature was performed to understand the anatomic relevance of the PSL and historical management of PSL defects.
Cureus
November 2024
Otolaryngology - Head and Neck Surgery, Shri B.M. Patil Medical College, Hospital and Research Centre, Vijayapura, IND.
The most common congenital cervical masses are thyroglossal cysts followed by branchial cleft anomalies. However, their synchronous presentation is uncommon. A man in his early thirties visited our ear, nose, and throat (ENT) outpatient department (OPD) with complaints of a three-month history of right-side neck swelling.
View Article and Find Full Text PDFCureus
November 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Holoprosencephaly (HPE) is a severe and complex congenital brain malformation caused by a defect in the midline cleavage of the prosencephalon during early embryonic development. It is the most common prosencephalic malformation in humans and is categorized into three classical forms based on the severity of this cleavage defect: alobar, semilobar, and lobar HPE. A milder interhemispheric variant, called syntelencephaly, is also considered a form of HPE.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone (ACTH) deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects.
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