Clinical genetics
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Review Case Reports
Respiratory complications of Ehlers-Danlos syndrome type IV.
Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. ⋯ On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.
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Review Case Reports
The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia.
Congenital heart defects (CHD) are a group of structural abnormalities that in humans have a combined incidence of approximately 1%. It is estimated that 4-5% of CHD are associated with chromosome abnormalities, 1-2% are associated with single gene syndromes, 1-2% are due to known teratogens, with the rest presumably determined multifactorially. ⋯ We feel the small number of family clusters and the rare instances of consanguinity in non-syndromal conotruncal defects are consistent with multifactorial determination. While it is prudent in counseling families with 2 or more individuals with conotruncal CHD to raise the possibility of single gene inheritance, we believe that current empiric recurrence risk estimates most accurately reflect their risks.
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Bloom's syndrome has been known as a clinical entity for 34 years. Careful records of cases diagnosed throughout the world have been maintained since its recognition as an entity, and most instances of cytologically verified Bloom's syndrome have been accessioned to what has been referred to as the Bloom's Syndrome Registry since the mid-1960s. ⋯ In the 130 persons in the Registry, 57 malignant neoplasms had been detected, the mean age at diagnosis being 24.8 years. Neoplasia in Bloom's syndrome is noteworthy not only because of its frequency and exceptionally early age of emergence but for its variety of histological types and sites of origin.