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At least 721 records · Page 40Linked to original sources

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.

Beckwith-Wiedemann Syndrome↗

Management of prolonged hypoglycaemia in Beckwith's syndrome.

A new-born baby with Beckwith's syndrome had severe hypoglycaemia, and was treated with glucagon and prednisone. Treatment was stopped at 1 month of age and his blood glucose levels were satisfactory for the ensuing 6 weeks. However, at 10 weeks of age, he had a hypoglycaemic convulsion and required large doses of diazoxide and prednisone for the next 2 months to maintain the blood glucose above 40 mg/100 ml. Insulin excretion was raised until he was 4 months old. Cases of Beckwith's syndrome which develop hypoglycaemia, should be treated with diazoxide and corticosteroids until insulin excretion is normal.

Abnormalities, Multiple↗

Beckwitt-Wiedemann's syndrome with medullary sponge kidneys, agonadism and persistent testosterone production.

A patient with Beckwitt-Wiedemann's syndrome is described in which associated malformations were hemihypertrophy of the body, medullary sponge kidneys and absence of testes and internal ducts. On the other hand, we demonstrated biochemically the existence of testosterone secretion, with active response to a 3-day HCG stimulation as well as prepuberty levels LH and FSH. This demonstrated the existence of functioning Leydig's cells. The diagnosis of agonadism and anorchia could not be entirely true since they lead to an erroneous conclusion that there always are some disseminated Leydig's cells.

Abnormalities, Multiple↗

Tongue volume in human female adults with mandibular prognathism.

It has often been hypothesized that a large tongue leads to an enlargement of the mandible and therefore contributes to the development of mandibular prognathism. We examined (1) whether the tongue volume in human subjects with mandibular prognathism was larger than that in subjects with good occlusion and (2) whether the tongue volume and the pharyngeal capacity correlated with the morphological characteristics of dento-skeletal structures. Magnetic resonance images of the tongue and its surrounding structures were recorded for female adult volunteers with good occlusion (control group, n = 10) and patients with mandibular prognathism (test group, n = 16). Lateral cephalograms were obtained for the patients. No significant differences were determined for the tongue volume or the pharyngeal capacity between the two groups. The tongue volume did not correlate with the pharyngeal capacity (r = 0.280, p = 0.166). The tongue volume correlated with the facial angle (r = 0.548, p = 0.028), the Y-axis (r = 0.539, p = 0.031), and the angle nasion-A point-pogonion (r = 0.540, p = 0.031). These results suggest that the tongue volume is accounted for by the combined horizontal and vertical location of the chin and symphysis, but do not support the conventional clinical surmise that large tongue volume is inherent in patients with mandibular prognathism.

Adult↗

Long term effects of the palatal plate therapy for the orofacial regulation in children with Down syndrome.

The objective of this study was to evaluate long term effects of orofacial regulation therapy with modified Castillo-Morales palatal plate on 68 Down children that attended our Unit from 1992 to 2001. Corrections obtained with palatal plate therapy were evaluated according to the following parameters: spontaneous lingual protrusion based on three level scale, position "open mouth", labial hypotonia and sialorrhea. The results showed distinct improvement in nearly all of the parameters compared to initial conditions.

Child, Preschool↗

Peeping through heart's window: a case report of Fallots tetralogy.

Tetralogy of Fallot is a congenital heart defect. A combination of four abnormalities in heart allow oxygen rich and oxygen-depleted blood to mix. The resulting low-oxygen blood then circulates through the body. A child with the condition tends to develop slowly, eat poorly and grow slowly and may experience "blue" spells on crying and dyspnea on exertion. A 12 year old child with this congenital heart defect and cleft palate with cleft lip is discussed. Details of the latest diagnostic and treatment procedures are also presented.

Child↗

Vanished twin and fetal alcohol syndrome in the surviving twin. A case report.

BACKGROUND: The diagnosis of twin pregnancy can be made early in pregnancy by ultrasonography (US). Follow-up examination occasionally demonstrates the disappearance of one of the twins. CASE: A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus papyraceus. CONCLUSION: Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. Careful examination of the placenta may document fetal remnants. In this case a small, atretic nodule on the placental surface was evidence of the vanished twin.

Abnormalities, Multiple↗

[Acromegaly].

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Acromegaly↗