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Fontanelle. A fontanelle (or fontanel) (colloquially, soft spot) is an anatomical feature of the infant human skull comprising soft membranous gaps (sutures) between the cranial bones that make up the calvaria of a fetus or an infant. [1] Fontanelles allow for stretching and deformation of the neurocranium both during birth and later as the ...
CDAGS syndrome, also known as CAP syndrome, is a very rare syndrome characterized by craniosynostosis and other cranial defects, delayed closure of the fontanelles, deafness, anal anomalies, genital malformations and skin eruption. [1] CDAGS is caused by heterozygotic compound variants in the RNU12 gene, which disrupts the function of the minor ...
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), [2] thereby changing the growth pattern of the skull. [3] Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the ...
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. [1] The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. [1] The front of the skull often does not close until later, and those affected are often ...
The anterior fontanelle (bregmatic fontanelle, frontal fontanelle) is the largest fontanelle, and is placed at the junction of the sagittal suture, coronal suture, and frontal suture; it is lozenge -shaped, and measures about 4 cm in its antero-posterior and 2.5 cm in its transverse diameter. The fontanelle allows the skull to deform during ...
Wrinkly skin syndrome(WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [ 1 ] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation ...
The disease was first described by Maroteaux and Lamy in 1962 [4] [5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. [6]
This is an X-linked condition affecting males more than females and is characterized by postnatal growth failure with developmental delays and dysmorphic features characterized by wrinkled forehead, anterior and posterior fontanels, prominent eyes, large down-slanting palpebral fissures, thickened or hooded eyelids, large ears, flared nares, hypoplastic alae nasi, short columella, protruding ...