𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PRENATAL DIAGNOSIS OF BLACKFAN–DIAMOND SYNDROME: CASE REPORT AND REVIEW OF THE LITERATURE

✍ Scribed by ANDREW C. MCLENNAN; LYN S. CHITTY; JUDY RISSIK; DARRYL J. MAXWELL

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
372 KB
Volume
16
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents with BDS, detailed and serial fetal ultrasonography and echocardiography, cordocentesis if there are signs of anaemia, consideration of in utero transfusions and planned early delivery if the fetus is affected.

📜 SIMILAR VOLUMES

Diamond-Blackfan anemia and malignancy:
Diamond-Blackfan anemia and malignancy: A case report and a review of the literature
✍ Riccardo Haupt; Carlo Dufour; Sandro Dallorso; Pier Giorgio Mori 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 1 views

s one of the authors reports in a comprehensive review , I nephrotoxicity of cisplatin involves several A a r t icle mechanisms, such as the inhibition of membrane transport and adenosine triphosphatase (.lTPase) activity as well as mitochondria1 injury leading to reduced oxygen consuniption,"." and

Prenatal diagnosis of FRA10A: A case rep
Prenatal diagnosis of FRA10A: A case report and literature review
✍ Juan De Leon-Luis; Joaquin Santolaya-Forgas; Gregory May; Vijay Tonk; Doug Shelt 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

## Abstract We report on the prenatal diagnosis of a familial fra10(q23)/del(10)(q23) detected after cellular cultures in non‐folic deprived medium. © 2005 Wiley‐Liss, Inc.

Prenatal ultrasonographic diagnosis of t
Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature
✍ Pascal Megier; Michael Ayeva-Derman; Olga Esperandieu; Marie-Cecile Aubry; Gerar 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB 👁 1 views

We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth a

Prenatal diagnosis of fetal cerebellar l
Prenatal diagnosis of fetal cerebellar lesions: a case report and review of the literature
✍ Reuven Sharony; Debora Kidron; Rami Aviram; Yoram Beyth; Ron Tepper 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 2 views

The fetal cerebellar structure, size and consistency are looked at in every system survey. Among the acquired cerebellar events that might change the cerebellar consistency are haemorrhage, infections in utero and neoplasia. Additional fetal malformations, if present, assist in making the final diag