332 Result(s)
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Living Reference Work Entry In depth
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome (PJS) was first described in 1921 by Peutz and subsequently elaborated upon by Jeghers in 1949 (Dong and Li 2004). The syndrome is characterized by gastrointestinal hamartomatous polyps ...
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Lymphangiomas and Lymphangiomatosis
Lymphangiomas are histologically benign but may have life-threatening potential with increasing size and encroachment of adjacent vital structures. Lymphangiomatosis is an extremely rare pathological condition...
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Palpebral Vernal Conjunctivitis/Keratoconjunctivitis
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Hydranencephaly
Hydranencephaly is a severe central nervous system disorder, characterized by complete or almost complete absence of cerebral cortex with preservation of meninges, basal ganglia, pons, medulla, cerebellum, and...
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Hereditary Sensory and Autonomic Neuropathies
Congenital indifference to pain has been reported since early 1930s (Dearborn 1932; Ford and Wilkins 1938; Boyd and Nie 1949; Winkelmann et al. 1962). Children with underlying peripheral neuropathies have impa...
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Gilbert Syndrome
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Winchester Syndrome
Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder. It was originally described nearly 50 years ago in two sisters with severe skeletal and joint deform...
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Nasal Obstruction in Neonates and Children
Nasal obstruction in the neonate may lead to serious consequences including respiratory distress or failure to thrive. While bilateral nasal obstruction often presents in the neonatal period, unilateral nasal ...
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Nager Acrofacial Dysostosis
Nager acrofacial dysostosis, described by Nager and deRenier in 1948, is a mandibulofacial dysostosis associated with preaxial limb abnormalities. It is a very rare disorder with <100 reported cases by 2012 (S...
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Macrodactyly
Macrodactyly is a rare congenital anomaly resulting in overgrowth of all the mesenchymal elements of the digit including phalanges, tendons, nerves, and vessels. Currently, the term macrodystrophia lipomatosa ...
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Niemann-Pick Disease
Niemann-Pick disease has been used to designate a heterogeneous group of autosomal recessive lysosomal lipid storage disorders (acid sphingomyelinase deficiency) (types A and B), with common features of hepato...
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Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy (Upadhyaya and Cooper 2002). It is characterized by progre...
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Opitz Trigonocephaly Syndrome
Opitz trigonocephaly syndrome, also known as C syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorph...
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Cleidocranial Dysplasia
Cleidocranial dysplasia is a generalized skeletal dysplasia affecting not only the clavicles but almost the entire skeletal system. It is characterized by aplasia or hypoplasia of the clavicles, enlarged calva...
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Miller-Dieker Syndrome
In 1963, Miller reported two siblings with a specific pattern of malformations in which lissencephaly was a key feature. Later in 1969, Dieker et al. described a similar condition. Jones et al. in 1980 further ch...
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Branchial Cleft Anomalies
Abnormal persistence of branchial apparatus remnants results in branchial anomalies. Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children (Bajaj et al. 2011).
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Mitochondrial Optic Neuropathy
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Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterized by congenital hypomegakaryocytic thrombocytopenia and bilateral absence of the radii with presence of both thumbs.
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T1-Weighted Image
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Oral-Facial-Digital Syndrome
In 1941, Mohr reported a family in which the propositus had oral (high-arched palate, lobate tongue with papilliform outgrowths), facial (broad nasal root, hypertelorism), and digital (syndactyly, brachydactyl...
