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Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect.
Birth Defects Res
December 2024
Department of Obstetrics and Gynecology, Perinatology unıt of Elazığ City Hospital, Elazığ, Turkey.
Background: Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or in conjunction with heart defects and forebrain abnormalities.
Case Report: A standard second-trimester ultrasound exam was recommended for, a 23-year-old primigravida woman who was at 22 weeks gestation.
Symmetric, Bilateral Auricular Calcifications in Twins With Noonan Syndrome.
J Craniofac Surg
January 2025
Division of Plastic and Oral Surgery, Baylor Scott and White Medical Center and McLane Children's Hospital, Temple, TX.
Noonan syndrome (NS) is a rare, genetic multisystem disorder often presenting with associated craniofacial abnormalities. The authors report an identical twin pair with classical features of NS including short stature, mild ptosis, hypertelorism, down-slanting palpebral fissures, low-set angulated ears, and giant cell tumors in the craniofacial skeleton. Interestingly, these patients also presented with bilateral, symmetric, dystrophic auricular calcifications.
View Article and Find Full Text PDFA Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.
Cureus
September 2024
Pediatrics, Saveetha Medical College and Hospitals, Saveetha Institute of Technical and Medical Sciences, Saveetha University, Chennai, IND.
Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair.
View Article and Find Full Text PDFAuricular Fissuring in Atopic Dermatitis: A Scoping Review.
Dermatitis
June 2024
Toronto Dermatology Centre, Toronto, Ontario, Canada.
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