Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features.

We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al.[(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.

Cranial sonographic findings in Joubert's syndrome.

The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children in the first family and 6 children in the second family were affected by Joubert's syndrome. To our knowledge, cranial sonographic findings in this syndrome have not been described before.

Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling.

Between January 1992 and January 1995 a total of 24,233 babies born consecutively in Corniche Hospital which is the only maternity hospital in Abu Dhabi, the capital of UAE, were surveyed for the presence of major congenital malformations. A total of 401 infants (16.6/1000) had a major defect. Of these malformations, 267 (67%) were associated with an estimated recurrence risk greater than 1%, and 95 (24%) carried an estimated recurrence risk greater than 10%. This included a total of 91 cases of single gene disorders and 4 cases of cleft lip and palate where a mother and another sibling were affected putting their estimated recurrence risk in the high category group. When antenatal diagnosis is feasible, this should be considered in 60% of mothers (a total of 242). In 59% (a total of 237) the estimated recurrence risk was > 1% and the antenatal diagnosis of the disorder was possible. The importance of Genetic Counselling is revealed in our study since more than three quarters of mothers were under 36 years old, and may well plan future pregnancies.

A survey of serious congenital morphological abnormalities in Abu Dhabi.

The overall incidence of severe congenital abnormalities diagnosed within the first week of life was 12.9/1000, which is similar to other surveys (1,2), although the distribution and type of abnormalities encountered varied considerably. The incidence of spina bifida and encephaloceles was lower than elsewhere (0.54/1000).

Scintigraphic visualisation of extrahepatic portal circulation in patients with portal hypertension using 99mTc-tin-colloid and 99mTc-HIDA.

Rapid dynamic sequential scintigraphy of the abdomen with 99mTc-tin-colloid and 99mTc-HIDA has been used to evaluate two patients with portal hypertension. 99mTc-tin-colloid was useful for visualisation of diliated vessels in the abdomen. Radionuclide hepatobiliary imaging was useful in such cases in evaluation of the hepatobiliary system.