Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.
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http://dx.doi.org/10.1097/00019605-200204000-00001 | DOI Listing |
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFCureus
October 2024
Genetics, Prince Sultan Military Medical City, Riyadh, SAU.
Desanto-Shinawi syndrome (DESSHS) is a rare autosomal dominant disorder caused by a loss of function variant or deletion of the WAC gene. DESSHS is characterized by dysmorphic features and global developmental delay. In this report, we discuss three boys with DESSHS.
View Article and Find Full Text PDFJ Pediatr Health Care
December 2024
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare but potentially life-threatening cause of upper airway obstruction in infants. It was first described in 1988 and 1989 in the radiology and otolaryngology literature. Congenital airway obstruction affects up to 1 in 5,000 infants, and many of these obstructions result from choanal atresia.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
June 2024
Department of Medicine and Dentistry, University of Santiago de Compostela, Santiago de Compostela, 15704 Spain.
Choanal atresia is an uncommon condition with an incidence of 1:5,000-8,000 live births, affecting females more frequently and often associated with other malformations. This case report presents a 42-year-old female patient who was born with bilateral choanal atresia and intervened surgically for the first time at birth. However, the formed orifice was reobstructed a few months afterward, necessitating reoperation in adulthood.
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