Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that ...

Congenital orthopaedic disorders are not infrequent. Even though some orthopaedic disorders are immediately obvious at birth (such as congenital talipes equinovarus [CTEV]), others are not apparent or may even be hidden (such as congenital bone hypoplasia). This means that a comprehensive orthopaedic examination is of great value when screening for congenital orthopaedic disorders [7]. Congenit...

The clinical, radiological, and pathological features of the 'oligohydramnios tetrad' (Potter's facies, limb malpositions, pulmonary hypoplasia, and growth retardation) resulting from chronic amniotic fluid leakage are described in 2 infants who died of respiratory failure within 12 hours of delivery. A third infant with a partial form of the syndrome had prolonged respiratory symptoms and surv...

developmental dysplasia of the hip (ddh) or congenital hip dysplasia (cdh) is the most prevalent developmental childhood hip disorder. it includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. the natural history of neglected ddh in adults is highly variable. the mean age of onset of symptoms is 34.5 years for dysplastic dd...

Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of th...

BACKGROUND Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. CASE REPORT We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by compute...

We report the case of a 46-year-old hypertensive Japanese female with renal insufficiency related to unilateral renal hypoplasia. The patient was found to have developed paraganglioma in the retroperitoneal space over a 5-year period. Catecholamine-producing tumors are not usually recognized as conditions associated with renal hypoplasia. Our long-term observation of the patient eventually led ...

hip fracture, the most dramatic complication of osteoporosis, constitutes a serious health problem of the elderly, with great socioeconomic consequences. hip fracture epidemiology has been studied by many investigators. until now, there are no reported studies in iran regarding this issue. we studied hip fractures that occurred in iran in 2003 and compared the findings with those of other count...

Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earl...

In recent years the more frequent use of x-rays has revealed various congenital abnormalities of the lungs which had formerly passed undetected during life, since the clinical signs and symptoms may be minimal. An attempt is made here to elucidate the different pictures which may be seen in varying degrees of underdevelopment of the lungs. For clarity of description the following nomenclature i...