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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Craniosynostosis due to specific syndromes (syndromic craniosynostosis) is usually associated with additional specific features and therefore correct differentiation between these conditions is possible. Examples include Crouzon syndrome (acrocephaly, synostosis of coronal, sagittal and lambdoid sutures and ocular proptosis, maxillary hypoplasia), Apert syndrome (brachycephaly, irregular synostosis, especially coronal suture and midfacial hypoplasia, syndactyly, broad distal phalanx of thumb, and big toe), Pfeiffer syndrome (brachycephaly, synostosis of coronal and/or sagittal sutures and hypertelorism, broad thumbs and toes, and partial syndactyly), and Antley–Bixler syndrome (brachycephaly, multiple synostosis, especially of coronal suture and maxillary hypoplasia, radiohumeral synostosis, choanal atresia, arthrogryposis). Abnormal craniofacial appearance can be detected prenatally by 2D/3D ultrasound (26,54–56).
Posterior Skull Surgery in Craniosynostosis
Published in Niall MH McLeod, Peter A Brennan, 50 Landmark Papers every Oral & Maxillofacial Surgeon Should Know, 2020
A fourth patient with Antley-Bixler syndrome and hydrocephalus had a ventriculo-peritoneal shunt and posterior skull release at the age of 3 months, followed by bilateral temporal decompressive craniotomies 2 months later, and a fronto-orbital advancement at the age of 3 years.
plastic Surgery
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Kangesu Loshan, Jonathan A. Britto, Neil Bulstrode, David Dunaway, Paul Morris, Branavan Sivakumar, Gill Smith, Guy Thorburn
The cranial sutures form in normal development in utero, where the radiating ossification plates of the foetal skull bones meet over site specific dura mater (covering the brain), to allow complex molecular events to determine suture formation. Where this process of suture formation/ossification is deranged, CSS results. There are many causative factors, including metabolic disease (mucopolysaccharidosis), hormonal disease (thyroid disease), and chromosomal anomaly relating to other named developmental syndromes. A family of genetic mutations in the fibroblast growth factor receptor genes, FGFR1, FGFR2 and FGFR3 are causative in the Crouzon and Pfeiffer syndromes (the Crouzon–Pfeiffer group are overlapping), Apert syndrome and coronal synostosis (uni- and bicoronal synostosis). Other genes are implicated in allied syndromes featuring CSS, such as Antley–Bixler syndrome and Saethre–Chotzen syndrome. Most of the genetic pathways leading to CSS result in accelerated differentiation of the osteoblast cells that promote ossification and skeletal maturity.
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report
Published in Gynecological Endocrinology, 2018
Tianran Song, Bin Wang, Huan Chen, Jingjing Zhu, Haixiang Sun
More than 40 POR mutations underlie mild and severe forms of POR deficiency (PORD) [6]. Patients with severe forms of PORD typically present with adrenal insufficiency, genital anomalies, infertility, and bony malformations that are characteristic of Antley–Bixler syndrome (ABS) [7]. Other studies show that POR mutations can affect CYP17A1, CYP21A2, and CYP19A1 activity, thus reducing steroid hormone synthesis [8,9].