Background Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia. Some patients also develop defects in cellmediated immunity and antibody production. Granulomatous inflammation has been described in patients with various forms of primary immunodeficiencies but, to date, has not been reported in patients with Cartilage-hair hypop...

We report monozygotic twins with longitudinal radial hypoplasia and low (L5) spina bifida occulta, but with differing severity. There is only one previous report of similar twins. We report these identical twins with the expression of longitudinal radial hypoplasia with mirror image pattern on contralateral sides, and the association of low spina bifida occulta.

Seven patients with optic nerve hypoplasia, born of epileptic mothers, are presented. All the mothers took anticonvulsants during pregnancy. The possibility that maternal anticonvulsant therapy may play a role in the genesis of optic nerve hypoplasia is discussed in the light of what is known about the teratogenicity of these agents.

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually enc...

De-Morsier’s syndrome or Septo-optic dysplasia is a rare medical disorder which is strongly associated with CNS, Ophthalmological manifestations. However, in minority of patients, this condition presents with olfactory tract hypoplasia. The CNS abnormalities include abnormalities of the hypothalamicpituitary axis, hypoplasia of the optic nerve. Often, absence of septum pellucidum is seen along ...

Salivary gland aplasia and hypoplasia are rarely described in the medical literature. This article presents a case of aplasia and hypoplasia of the major salivary glands in a patient with Down syndrome. A literature review, as well as an overview of the diagnosis and management of this condition, is presented.

This study presents an anthropological analysis of enamel hypoplasias form from 309 skulls from archaeological excavations in various geographical areas of the Hellenic landscape belonging to different chronological periods. The sample comprises a total of 1386 permanent teeth of different morphological types were recognized and graded as to the feature of enamel hypoplasia The examine of the e...

Cochlear nerve (CN) aplasia refers to the absence of a visible CN on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (IAC). Magnetic resonance (MR) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (CT) is used to evaluate the IAC or facial nerve canal. Three types of aplasia or hypopl...

Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...