We report on a child with micrognathia, a short, webbed neck, joint contractures, hypoplastic nipples, and a number of other anomalies. There are striking similarities to a patient reported by [Dinno and Weisskopf (1976); Synd Ident, 4:10-12], and we postulate that this child represents the second patient with this condition.
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http://dx.doi.org/10.1002/ajmg.a.35224 | DOI Listing |
J Clin Aesthet Dermatol
December 2024
Mr. Dahabreh and Drs. Hazan and Khorasani are with the Department of Dermatology, Icahn School of Medicine at the Mount Sinai Medical Center in New York, New York.
V-to-Y advancement flap is a successful repair technique that preserves vascular and tissue integrity adopted after Mohs micrographic surgery to repair cutaneous defects on the head and neck. However, defects at the lateral distal nasal ala requires large extension beyond cosmetic margins that increase risk of skin webbing, an undesired result on a cosmetically sensitive location to the patient. In this article, we present a novel approach to modifying the procedure employing the V-to-Y advancement flap by truncated the trailing end of the island pedicle to allow for successful healing and better patient satisfaction.
View Article and Find Full Text PDFFacial Plast Surg
November 2024
Stomatology Maxillo-Facial Reconstructive and Aesthetic Surgery Department, Mohamed Tahar Maamouri University Hospital, Nabeul, Tunisia.
J Clin Med
September 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs.
View Article and Find Full Text PDFWest Afr J Med
July 2024
Cardiology Unit, Department of Medicine, University of Ibadan, Nigeria. E-mail: Tel. +2348067747121.
Background: Cardiac disorders are found in about half of cases of Noonan syndrome (NS). The most common congenital heart diseases in this syndrome include pulmonary valvular stenosis obstructive or nonobstructive hypertrophic cardiomyopathy (17%). Biventricular hypertrophic cardiomyopathy (HCM) is very rare in this condition.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
October 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China. As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.
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