BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I) or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thorac...

BACKGROUND Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by M...

PURPOSE Isolated vestibular-lateral semicircular canal dysplasia (LSCCD) is one of the most common anomalies of the inner ear. However, endolymphatic size in LSCCD is unknown. We measured the size of the endolymph in the vestibule of patients with LSCCD and compared it with that measured in patients without LSCCD. METHODS We extracted 1102 magnetic resonance (MR) studies for the evaluation of...

The lessons learnt from the treatment of previous radiation accidents using either bone marrow transplantation or growth factor therapy suggest that it is of importance to investigate new therapeutic regimens. Ex vivo expansion of haematopoietic stem cells, precursors and differentiated cells is a new approach of growth factor therapy which may be of interest for the treatment of patients with ...

human erythropoietin causing pure red cell aplasia. Clin Nephrol 1997; 47: 331–335 8. Casadevall N, Nataf J, Viron B et al. Pure red-cell aplasia and antierythropoietin antibodies in patients treated with recombinant erythropoietin. N Engl J Med 2002; 346: 469–475 9. Bunn HF. Drug-induced autoimmune red-cell aplasia [Letter]. N Engl J Med 2002; 346: 522–523 10. Weber G, Gross J, Kromminga A et ...

cochlear nerve (cn) aplasia refers to the absence of a visible cn on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (iac). magnetic resonance (mr) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (ct) is used to evaluate the iac or facial nerve canal. three types of aplasia or hypopl...

which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Paranasal sinuses are prone to a great diversity of anomalies. Aplasia of the frontal sinus is a relatively common phenomenon and may be accompanied with hypoplasia of the maxillary sinus, but combined aplasia or underde-velopment of the paranasal sinuses is unusual (1, 2)...

BACKGROUND In veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia. CASE PRESENTATION Following a normal delivery, a full term, female Friesian stillborn foal ...

AIM To define the relation between T large granular lymphocyte (T-LGL) leukaemia and pure red cell aplasia in Chinese patients. METHODS Patients with T-LGL leukaemia were identified from a consecutive series of Chinese patients with chronic lymphoproliferative disorders. The diagnosis of T-LGL leukaemia was based on typical morphological and immunophenotypical features, and confirmed by the d...

OBJECTIVE We present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature. CASE REPORT A 35-year-old woman presented with multiple fetal anomalies at 22 weeks of gestation. She and her husband were non-consanguineous and there was no family history of congenital malformations. This ...