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Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
Carpenter syndrome is a very rare autosomal recessive condition characterized by craniosynostosis, which may affect all sutures causing a cloverleaf skull, and also polysyndactyly (accessory digits with fusion of the digits) and brachydactyly (shortened digits). Mixed hearing loss may also occur. Patients may have obesity and may show learning difficulties.48 The causative gene has been identified as RAB23.49
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other conditions with polydactyly and/or syndactyly: postaxial polydactyly type A (PAP-A): isolated postaxial polydactyly, with a well-formed supernumerary digit on one or both hands and feet. oral-facial-digital syndrome Type 1: X-linked dominant disorder which shows similar hand and foot malformations, but also has characteristic facial and oral cavity features (cleft palate and tongue, multiple frenula, abnormal dentition). Carpenter syndrome (p. 415).
Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele
Published in Fetal and Pediatric Pathology, 2019
Fatih Aktoz, Ozgur Ozyuncu, Atakan Tanacan, Erdem Fadiloglu, Canan Unal, Tutku Soyer, Tolga Celik, Mehmet Sinan Beksac
Gastroschisis was defined as the presence of a paraumbilical abdominal wall defect, usually to the right of the midline, with visceral herniation on ultrasound examination. The umbilical cord insertion site adjacent to the defect was normal. The intestines floated freely in the amniotic fluid without a covering membrane. Omphalocele was defined as an upper, middle, or lower midline abdominal wall defect covered by an outer membrane of amnion and an inner membrane of peritoneum containing abdominal contents on ultrasound examination [3, 4]. All omphalocele cases were evaluated in terms of associated syndromes like Pentalogy of Cantrell, amniotic band sequence, schisis association, OEIS syndrome (omphalocele, exstrophy of the bladder, imperforate anus, spinal defects), Shprintzen syndrome, Carpenter syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, otopalato-digital type II syndrome, CHARGE (coloboma, heart defect, atresia choanae, restricted growth and development, genital abnormality, and ear abnormality) syndrome, and Beckwith-Wiedemann syndrome (macroglossia, gigantism, omphalocele) [14–16]. A detailed ultrasound examination was performed in order to detect coexisting abnormalities and all cases were evaluated by medical genetics. Suspicious findings for a fetal abdominal wall defect was recorded during the first trimester ultrasound scan of all the cases. However, final diagnosis was confirmed by detailed fetal abnormality screening performed between the 18th and 22nd gestational weeks by an expert perinatologist.