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...

Poland syndrome is a rare congenital malformation. This syndrome was described in 1841 by Alfred Poland at Guy's Hospital in London. It is characterized by hypoplasia of the breast and nipple, subcutaneous tissue shortages, lack of the costosternal portion of the pectoralis major muscle and associated alterations of the fingers on the same side. Corrective treatment of the chest and soft tissue...

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...

The most common anatomical variation of the superficial femoral artery (SFA) is hypoplasia or aplasia associated with a persistent sciatic artery. We report a case exhibiting SFA hypoplasia combined with connection of the deep femoral artery (DFA) to the popliteal artery (in other words, the DFA became the popliteal artery). A 41-year-old man was admitted with a crush injury of the left foot. C...

We report the first observation of perinatal death attributable to morphological alterations of the parabrachial/Kölliker-Fuse complex. In an infant, born at 41 weeks of gestation with severe signs of asphyxia and dead 20 h after delivery, we observed the presence of rare and immature neurons in the brain stem areas of both lateral and medial parabrachial nuclei and the absence of the character...