Rare Diseases Symptoms Automatic Extraction

[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography].

[holt-oram syndrome]

Authors report the cases of the autosomal dominant Holt-Oram syndrome encountered during genetic counseling in the authors' institution between 1976 and 2005. A male patient with Holt-Oram syndrome considered the 50% risk of transmission of the disease too high, thus he decided against fathering children. Prenatal fetal ultrasonography and echocardiography were performed in two pregnant women affected with Holt-Oram syndrome. In one case the possibility of the syndrome was excluded, in the other Holt-Oram syndrome was diagnosed. In two further cases Holt-Oram syndrome was prenatally diagnosed on the basis of ultrasonography in two midtrimester fetuses from unaffected parents. In one case the cardiac and skeletal malformations proved to be so serious that the couple requested termination of the pregnancy. The pathologic examination of the fetus confirmed the prenatal diagnosis.

Diseases presenting "prenatal diagnosis" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cystinuria
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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