Six cases are presented which provide clinical evidence that optic nerve hypoplasia can occur as a result of a lesion at any site in the developing visual system. The mechanisms of hypoplasia are discussed in the light of recent understanding of optic nerve development.

Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.

UNLABELLED INTRODUCTION X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the firs...

Three cases of absence of the carpal scaphoid bone have previously been reported in this country (Hodgson 1943, Hanley and Conlon 1957). All three had similar deformities, namely absence or hypoplasia of the carpal scaphoid bone, associated with retardation in the development of the first metacarpal bone, the styloid process of the radius and thenar muscles. While agreeing with these authors th...

INTRODUCTION Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infectio...

We present two children with hypoplasia of the left trapezius muscle and a history of ipsilateral transient neonatal brachial plexus palsy without documented trapezius weakness. Magnetic resonance imaging in these patients with unilateral left hypoplasia of the trapezius revealed decreased muscles in the left side of the neck and left supraclavicular region on coronal views, decreased muscle ma...

Septo-Optic Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis of the corpus callosum and absence of the septum pellucidum. We encountered a Japanese girl with optic nerve hypoplasia, growth failure, precocious puberty, and mild developmental delay. Her optic nerve hypoplasi...

Prenatal airway smooth muscle (ASM) peristalsis appears coupled to lung growth. Moreover, ASM progenitors produce fibroblast growth factor-10 (FGF-10) for lung morphogenesis. Congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia, FGF-10 deficiency, and postnatal ASM dysfunction. We hypothesized ASM dysfunction emerges in tandem with, and may contribute toward, the primordial ...

INTRODUCTION Hypoplasia of the internal carotid artery is a rare congenital anomaly, with only 24 cases of bilateral internal carotid artery hypoplasia reported to date. Here, we present the case of a 48-year-old woman with bilateral internal carotid artery hypoplasia. She had a collateral circulation through the vertebrobasilar system; however given the high pressure flow she developed aneurys...

Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgi...