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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 ...
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 ...
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]
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
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 ...
Shaken baby syndrome. Shaken baby syndrome (SBS), also known as abusive head trauma (AHT), is a medical condition in children younger than five years old, [3] generally caused by blunt trauma, vigorous shaking, or a combination of both. [1] SBS is the leading cause of fatal head injuries in children under two, [4] with a risk of death of about ...
Carpenter syndrome. Carpenter syndrome, also called acrocephalopolysyndactyly type II, [1] is an extremely rare autosomal recessive [2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. [2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF). It is a group of abnormalities of eye movement and pupil dysfunction and is named for Henri Parinaud [6 ...