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Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
There is microcephaly with a sloping forehead, wide sagittal sutures and fontanelles and aplasia cutis congenita. There may also be holoprosencephaly (lack of septation of the forebrain – lack of a corpus callosum).
Growth of the Cranial Vault
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
While the head circumference of boys is approximately 0.9 cm larger than that of girls at all ages (Nellhaus, 1968) the parietal and occipital bones tend to be thicker in females (Adeloye et al., 1975; Ishida and Dodo, 1990). The male skull is characterized by a heavier development of its superstructures, especially the frontal bossing and the occipital eminence. Because of a more sloping forehead, the lateral contour of the male cranium forms a smoother and more even curve, while the female cranium has a more angular outline (Sicher and DuBrul, 1970).
Radiological Identification Anthropological Parameters
Published in Michael J. Thali M.D., Mark D. Viner, B. G. Brogdon, Brogdon's Forensic Radiology, 2010
Bony characteristics of the skull and mandible may be useful in assigning sexual identification to unknown remains23-25 (Figure 8.19). The male skull tends to range from mesoce- phalic to dolichocephalic; the female skull is more likely to be mesocephalic to brachycephalic. The male has a larger brow or supraorbital ridge and a more sloping forehead. The male zygomatic arch is wider and heavier. The male inion or nuchal crest is prominent. The male mastoid process is larger and heavier. The male mandible is larger and more rugged with a wide ascending ramus. Male orbits tend to be larger and higher. The inferior nasal spine is longer in the male.
Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review
Published in Neuro-Ophthalmology, 2023
Igor Kozak, Syed M. Ali, Nicholas Hoque, Doris Lin, Thomas M. Bosley
The same group subsequently reported the same syndrome in three additional families from Turkey, Afghanistan, and Morocco caused by three new homozygous mutations in JAM3 in exon 6, exon 4, and in the initiator codon.2 This study confirmed generally low birth weight, normal to increased head circumference, sloping forehead, bulging anterior fontanelle, evidence of acute or chronic intraparenchymal haemorrhages, subependymal calcifications, and congenital cataracts. A number of children had developmental abnormalities of the liver and/or kidneys as well. Neuroimaging revealed multiple intraparenchymal haemorrhages involving predominantly white matter and basal ganglia with subsequent encephalomalacia and porencephaly. Affected individuals generally had a catastrophic early neurological clinical course resulting in death in infancy, although some individuals had a milder clinical course and survived longer with rehabilitation.
Manufacture of custom‐made spectacles using three‐dimensional printing technology
Published in Clinical and Experimental Optometry, 2020
Emre Altinkurt, Nihan Aksu Ceylan, Umut Altunoglu, Gozde Tutku Turgut
A nine‐month‐old patient with MCPH/SCKS spectrum presented with bilateral congenital cataracts and microcornea. Her physical dimensions were: weight 3,450-g, height 50-cm, and head circumference 27.5-cm. She presented with a narrow sloping forehead, prominent metopic ridge, short, narrow, and down‐slanting palpebral fissures, bilateral epicanthal folds, pseudostrabismus due to telechanthus, bilateral cataracts, hypoplastic alae nasi, prominent nasal bridge, broad and convex nasal ridge, narrow palate, prominent stem of antihelix and attached ear lobules. Oedema of the dorsum of the hands and feet, pseudocamptodactyly of fingers two to five, and bilateral single flexion creases of the fifth fingers were also noted. The patient also displayed horizontal nystagmus, mild hypertonicity, and normoactive deep tendon reflexes.
TUBGCP4 – associated microcephaly and chorioretinopathy
Published in Ophthalmic Genetics, 2020
Mariana Matioli Da Palma, Fabiana Louise Motta, Guilherme Eiichi Da Silva Takitani, Mariana Vallim Salles, Luiz Henrique Lima, Juliana Maria Ferraz Sallum
Microcephaly and chorioretinopathy (MCCRP) is a rare Mendelian autosomal recessive disorder characterized by onset at birth, dysmorphic facial features (sloping forehead, micro/retrognathia, prominent ears), microcephaly, developmental delay ranging from mild to profound, and visual impairment with chorioretinopathy (4). Three types of MCCRP have been identified: MCCRP1 (OMIM: 251270) due to pathogenic variants in the tubulin-gamma complex-associated protein 6 (TUBGCP6) gene; MCCRP2 (OMIM: 616171) with variants in the polo-like kinase 4 (PLK4) gene; and MCCRP3 (OMIM: 616335) due to variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene, the last of which was recently described (5).