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Case 2.10
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
This is an intraoperative photograph of an intubated infant with the facial features of trigonocephaly, including:a metopic ridge,bitemporal narrowing, andhypotelorism.
Abnormal Skull Shape
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
A strawberry-shaped skull should raise the suspicion of trisomy 18 (Edward's syndrome). Check prior screening: maternal age is more likely to be advanced and the nuchal translucency may have been raised at 11–14 weeks. Early-onset growth restriction is often present, and the pregnancy may have been re-dated on an early scan. Other indicators of trisomy 18 may be present, such as choroid plexus cysts, micrognathia, congenital heart disease, exomphalos, and talipes equinovarus. Trigonocephaly, of similar appearance, is due to fusion of the metopic suture and can also be part of Jacobsen or Opitz C syndromes.
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
Tessier33 originally described this procedure and it is now the mainstay for treatment of these conditions. It allows a conformational change of the forehead (and anterior cranial fossa) to take place, as well as allowing the anterior placement of the neo-forehead in order to increase the skull volume to minimize the risks of raised ICP. At the same time, the bifrontozygomatic width may be altered to correct the relative hypotelorism that ensues secondary to trigonocephaly. Conversely, this can be narrowed for patients with bicoronal synostosis.
C syndrome - what do we know and what could the future hold?
Published in Expert Opinion on Orphan Drugs, 2019
Roser Urreizti, Daniel Grinberg, Susanna Balcells
Since 1969, some 60 cases have been reported in the literature [1–7,9–35] but they seem to represent a heterogeneous grouping. First, some cases carry chromosomal abnormalities, in chromosome 3 (del 3q [11], rec(3) [13], 3p trisomy [23]) or involving other chromosomes such as t(13;18)(q22;q23 [19], reciprocal translocation t(2;17)(p25;q24) [26], 13q22-qter partial trisomy [36], 9q deletions [27], reciprocal translocation t(3;18)(q13.13;q12.1) [28], a deletion at 4q28.3q31.23 [37] and der(7)t(7;13)(p22;q21) [31]. While these cases would not be considered as simple OCS, there could be putative genes related to OCS pathology in these chromosomal regions. In this sense, the 9q34.3 deletion first described in an OCS patient, has been identified as a microdeletion syndrome known as Kleefstra Syndrome [38], with some clinical overlap with OCS. Second, it has to be taken into account that, while trigonocephaly is one of the main characteristics of the OCS and it is a definitional trait, it is a common trait present in many other syndromes, including terminal deletions at 3p, 9p and 11q and in the distal 3q trisomy [23].
Diagnosis of central nervous system abnormalities: comparison of prenatal neurosonography and foetal magnetic resonance imaging findings
Published in Journal of Obstetrics and Gynaecology, 2022
Sureyya Saridas Demir, Erkan Cagliyan, Fatma Ceren Sarioglu, Handan Guleryuz, Sabahattin Altunyurt
Foetal MRI demonstrated vermian hypoplasia with corpus callosum anomalies, hydrocephalus with lissencephaly and cerebellar hypoplasia, haemorrhage in germinal matrix and Chiari malformation type II in 1, 2, 1, and 1 among 12 cases with a suspicion of hydrocephalus in foetal USG. Foetal MRI reported cerebellar hypoplasia and normal anatomic findings in 1 and 2 of 4 cases with a diagnosis of microcephaly in neurosonography. Foetal MRI reported additional finding as macrocephaly and arachnoid cyst in a case with macrocephaly. No abnormality was found in foetal MRI in two cases with lissencephaly. Foetal MRI changed the diagnosis of a case with trigonocephaly to ventriculomegaly.