In view of the persistent claim of Australian Vietnam veterans that their health and that of their children were adversely affected, aspects of reproductive behaviour and the distribution of disease and disability in family units were investigated in a sample of Tasmanian veterans and another group chosen for comparison of selected characteristics. One third of veterans reported serious health ...

Thirty-four patients wtih fibrodysplasia (syn., myositis) ossificans progressiva are described. Marked delay in diagnosis was usual, but all had characteristic skeletal malformations and ectopic ossification. The clinical features included: four types of malformation of the big toe, reduction defects of all digits, deafness, baldness of the scalp, and mental retardation. Progression of disabili...

Urologic abnormalities (UA) have been reported in the literature but not bladder agenesis.1 The occurrence of genitourinary anomalies has been reported in association with numerous pathologic alterations classified as vertebral/skeletal, genital, gastrointestinal, and miscellaneous. The combination of symptoms is nonrandom. These malformations are presumed to result from a disturbed migration o...

Fetus amorphous acardious is a rare fetal malformation, lacking a functional heart and bearing no resemblance to human embryos. The main differential diagnosis is with placental teratoma and is based on the degree of skeletal organization and umbilical cord formation. A 27-year old woman delivered a healthy newborn at 37 weeks' gestation. An amorphous mass, covered with healthy looking skin, wa...

Dysregulation of growth and differentiation factor 5 (GDF-5) signalling, a member of the TGF-beta superfamily, is strongly linked to skeletal malformation. GDF-5-mediated signal transduction involves both BMP type I receptors, BMPR-IA and BMPR-IB. However, mutations in either GDF-5 or BMPR-IB lead to similar phenotypes, indicating that in chondrogenesis GDF-5 signalling seems to be exclusively ...

BACKGROUND Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation. METHODS An outline of the postnatal work up leading to the management...

Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and (99m)Tc radionuclide thyroid scintigraphy. Malformations were identified by clinical exa...

A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a sw...

In the field of oral-maxillofacial surgery, vascular malformations present in various forms. Abnormalities in the size of the tongue by vascular malformations can cause mandibular prognathism and skeletal deformity. The risk in surgical treatment for patients with vascular malformation is high, due to bleeding from vascular lesions. We report a rare case of macroglossia that was treated by part...

BACKGROUND Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. METHODS We retrospectively reviewed surgical cases of congenital malformation of the female genital tr...