Evaluation of prenatal diagnosis of congenital heart disease.

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially where congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high risk groups.

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.

Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and altered glucose homeostasis. This syndrome is related to mutations in the insulin receptor (IR) gene that impair the transmission of the insulin signal by several mechanisms. There is no effective therapy and patients usually die within the first months of life.

[Spontaneous colonic perforations revealing Ehlers-Danlos syndrome type IV].

Background: The malignant form of Ehlers-Danlos syndrome type IV owes its bad reputation to a proneness to spontaneous rupture of bowel or large vessels, which may reveal the disease.

Case Report: A girl suffered acute rupture of the sigmoid at the age of 5 years and rupture of the left colon, twice, at the age of 11 and 13 years, respectively. These ruptures required colostomy and finally colectomy.

Autosomal recessive omodysplasia.

The authors report on a new case of omodysplasia with severe shortness of lower limbs and with first cousin parents. This condition is a second form of omodysplasia. Recessive transmission is confirmed by consanguinity.

A girl with an end-to-end fusion of two X'S.

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta.

[A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

We describe a case of (2) (q34;q36) deletion in a girl. The main clinical features of the proband are staturo-ponderal retardation, skull-face dysmorphia and an interauricular communication. The relationship between morphological and chromosomal abnormalities is discussed.