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Pediatric and Fetal Autopsies
Published in Cristoforo Pomara, Vittorio Fineschi, Forensic and Clinical Forensic Autopsy, 2020
Stefano D’Errico, Angelo Montana, Giulio Di Mizio, Monica Salerno
The shape of the head abnormalities related to molding, trauma, soft tissue edema, and hemorrhages is recorded. Facial measurements are helpful in determining hypotelorism and hypertelorism. The external examination needs a detailed description of muscle bulk, local/generalized edema, pallor, and dysmorphic features.
Cranial and Facial Defects
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Holoprosencephaly is a developmental brain abnormality. The defect refers to the formation of the diencephalon and, subsequently, the telecephalon. The head is smaller on ultrasound examination. The most important feature in this condition is the absence of a midline falx, a point differentiating it from hydrocephalus and hydranencephaly. Facial anomalies are usually associated with this condition. When hypotelorism is found in conjunction with absence of midline echo, the antenatal diagnosis of alobar holoprosencephaly is almost certain.
Growth of the Orbit
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Frontonasal dysplasia need not always produce hypotelorism. Sometimes the aberration may result in deficient “frontation” of the developing eyes, with hypertelorism the result — another wide spectrum of disorders (Gorlin, in Bergsma, 1969; Cohen et al., in Bergsma, 1971; Ortiz Monasterio et al., 1990). Hypertelorism may sometimes be a part of facial or cranial clefting (Tessier, 1972).
Congenital alacrima
Published in Orbit, 2022
Zhenyang Zhao, Richard C. Allen
Alacrima, achalasia, and mental retardation (AAMR) syndrome is an autosomal recessive disorder caused by mutations in GMPPA, which encodes guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), an uncharacterized homolog to GMPPB. One of the major functions of GMPPB is to promote the synthesis of GDP-mannose, which is a critical active mannose donor involved in all three major types of glycosylation. Alacrima, developmental delay and intellectual disability are universally observed at birth or early infancy.40,41 Of note, adrenal insufficiency is not found in AAMR, which distinguishes it from AAAS. Dysmorphic oculofacial features have been described by Leon, including epicanthal folds and hypotelorism.41 Visual abnormalities are reported in 30% of the patients from Koehler’s series, however, no further diagnostic elaboration is available.40 Other ocular features include anisocoria, strabismus with exodeviation and nystagmus.
Dinosaur Tail Appendix in Trisomy 13
Published in Fetal and Pediatric Pathology, 2022
Mădălina Boșoteanu, Cristian Ionuț Orășanu, Mariana Așchie, Mariana Deacu, Georgeta Camelia Cozaru, Costel Brînzan, Anca Florentina Mitroi
This 38-week gestational age female with full trisomy 13 died at 19 days of age. In addition to the more commonly described morphologic abnormalities (growth restriction - birth weight of 2100 g, cebocephaly, ocular hypotelorism, single nostril, microphthalmia, flat nasal bridge, keilognatopalatoschizis, micrognathia, low-set ears, postaxial polydactyly of feet and hands, single palmar transverse crease, rocker-bottom feet, closed fontanels, hypogyria, lobar holoprosencephaly, single cerebral ventricle), there was a dinosaur-tailed appendix (Fig. 1).
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population
Published in International Journal of Neuroscience, 2023
Dilsad Turkdogan, Ayberk Turkyilmaz, Gunes Sager, Gulten Ozturk, Olcay Unver, Merve Say
Homozygous mutations of ELOVL4 cause very rare devastating neurological disorders characterized by seizures, spastic quadriplegia, ichthyosis, and premature death (OMIM: #614457). In addition to the common features, patient #3 had a number of novel dysmorphisms including frontal bossing, smooth philtrum, hypotelorism, small mouth and midfacial hypoplasia (Table 4).