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 ...

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...

Fifteen patients presented with foveal hypoplasia as an isolated ocular finding. The characteristic findings associated with this entity are a visual acuity of 6/21 or worse, nystagmus, and a typical ophthalmoscopic appearance of the macular area, including absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the pres...

Pulmonary hypoplasia (PH), a rare congenital anomaly is observed with incomplete development of the lung, and may be associated with anomalies in other body systems. The clinical presentation varies with the extent of hypoplasia and the patient may be asymptomatic or may present with severe respiratory distress in the neonatal, infancy or childhood period. A six year old girl suffering from rig...

The underlying pathophysiology of obstructive sleep apnea is beginning to be unraveled better in recent years. Mandibular hypoplasia is now considered to be a significant reason for this disorder. Mandibular hypoplasia can result from a variety of causes including congenital like, mandibulofacial dysostosis, and acquired conditions like TMJ ankylosis. The use of distraction osteogenesis for the...

Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and ...

Abnormalities of the central nervous system are frequently described in optic nerve hypoplasia. In a longitudinal study of 46 consecutive children (32 term, 14 preterm) with bilateral optic nerve hypoplasia 32 (69.5%) had associated neurodevelopmental handicap. Of these, 90% had structural central nervous system abnormalities on computed tomographic brain scans. Neurodevelopmental handicap occu...

Endocardial fibroelastosis in neonates with hypoplasia of the left ventricle is usually associated with severe aortic stenosis or atresia. In this study three hearts were examined, in which severe hypoplasia of the left ventricular cavity with myocardial hypertrophy and endocardial fibroelastosis were associated with small but non-stenotic subaortic outflow tracts and aortic valves. These featu...

Hypoplasia of the meniscus is a very rare congenital abnormality, with only a few cases reported to date. A 9-year-old girl visited our hospital due to lateral knee pain following a hyperextension injury to the left knee. Magnetic resonance imaging showed hypoplasia of the medial and lateral menisci, as well as a posterior horn tear of the lateral meniscus, in both knee joints. To our knowledge...