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The acronym SHORT stands for Short Stature, Hyperextensibility of Joints or Hernia or both, Ocular Depression, Rieger
Anomaly, and Teething Delay. Short stature with loss of fat under the skin
(lipoatrophy) of the arms and face are very frequent features. Other distinguishing
symptoms include defective development of the anterior chamber of the eye and diabetes
mellitus.
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Reiger Anomaly-Growth Retardation Syndrome.
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Uncertain. Probably an autosomal recessive
trait. Individuals affected with this disorder are usually born with a low
birth weight. Some reported cases of autosomal dominant inheritance.
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Clinical features. Radiological features include delayed
bone age. Growth hormone and thyroid function test are normal.
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Craniofacial: distinctive triangular face; broad forehead;
down-slanting palpebral fissures; broad nasal bridge; hypoplastic alae;
down-turned corners of mouth; mild micrognathia. Teeth: delayed dentition;
small, stained teeth. Eyes: sunken eyes, iridocorneal anomaly, congenital glaucoma.
Ears: anteverted ears; sensorineural deafness. Joints: hyperextensibility; congenital
hip dislocation. Limbs: clinodactyly. Abdominal: inguinal hernia. Growth: low birth weight
dwarfism; short stature; lipoatrophy. Neurological: developmental delay; speech delay.
Endocrinological: diabetes mellitus. Not all features may be present for the diagnosis.
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Check blood glucose levels before,
during, and after procedure.
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Preoperative fasting and glucose/insulin
requirement depends on the presence and the severity of diabetes mellitus.
Developmental delay and deafness may cause anxiety and a lack of
cooperation. Care with positioning of patient to avoid dislocation of
hyperextensible joints.
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Avoid succinylcholine and other drugs
that may increase intraocular pressure in the presence of glaucoma.
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Aarskog Ose Pande Syndrome: First described in 1983.
Characterized by lipodystrophy especially on the face and buttocks, Reiger anomaly,
short stature, insulopenic diabetes mellitus, glucose intolerance, midface hypoplasia,
hypotrishosis, and retarded bone age. It has been suggested that this medical condition
is distinct from SHORT syndrome because of the absence of joint hypermobility and less
extensive lipodystrophy. The diabetes mellitus is usually noted by the fourth decade of
life, but the onset may also be variable. The incidence is estimated as high as
1:133,000 Northern European regions, especially in the Lofoten Islands of Norway. An
autosomal dominant inheritance trait has been suggested.
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Rieger Syndrome: A genetically determined syndrome of the
anterior chamber of the eyes and the teeth, combining features of the
Axenfeld syndrome with oligodontia. An opaque ring at the margin of the
cornea, iris adhesion to the Schwalbe ring, hypoplasia of the anterior
stroma of the iris, and tooth anomalies. Other features include hypoplasia
of the malar bones, broad and flat nose, prognathism, and hypertelorism.
Myotonic dystrophy, mental retardation, brachydactyly, clinodactyly,
arachnodactyly, and polydactyly have been reported. Autosomal dominant
inheritance but sporadic cases are also seen, suggesting a recessive
pattern. When occurring without the dental and skeletal defects, it is
called the SHORT syndrome.
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Axenfeld Syndrome: Considered a variant of the Rieger
syndrome. Defects limited to the ...