Amelogenesis imperfecta is a hereditary disorder displaying group of conditions which cause developmental alterations in the structure enamel. The adverse effects it has on oral health and quality life individual warrants identification contributing factors for excessive wear loss vertical dimension. Extensive restorative treatment imperative correction such severely worn out dentition. Rehabil...

BACKGROUND/AIMS Hereditary gingival fibromatosis is characterized by various degrees of attached gingival overgrowth. It usually develops as an isolated disorder but can be one feature of a syndrome. A case of a 38-year-old female is reported who presented a generalized severe gingival overgrowth, involving the maxillary and mandibular arches and covering almost all teeth. The clinical differen...

SUMMARY Neuroacanthocytosis is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis in the peripheral blood. Clinical manifestations of this disorder resemble those of Huntington disease (HD). Neuroimaging features of neuroacanthocytosis are atrophy and signal intensity change of the striata on MR imaging, as in HD. We report herein the ca...

Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the general population. It is an important cause of severe, usually irreversible, visual loss among young adults with a peak age of onset in the second and third decades of life. Management is currently mostly supportive but recent developments in LHON research are pointing the way towards ...

G AUCHER’S DISEASE is an inherited disorder1 of sphingolipid nietabolism caused by a deficiency of glucocerebrosidase.2”-’ The deficiency of this enzyme leads to the accumulation of its substrate, glucocerebroside,3 in reticuloendothelial cells, imparting to them their characteristic appearance. The presence of Gaucher cells was considered pathognomonic of this hereditary disorder until 1966 at...

The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and type 2. Distal HMN might also be related to the spinal muscular atrophies (SMA) since, in both dis...

Congenital amusia (commonly known as "tone deafness") is a lifelong impairment of music perception that affects 4% of the population. To estimate whether congenital amusia can be genetically transmitted, its prevalence was quantified by direct auditory testing of 71 members of 9 large families of amusic probands, as well as of 75 members of 10 control families. The results confirm that congenit...

Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU). Prenatal ultrasound showed limb hypoplasia, skull hypomineralization, and polyhydramnios. Seizures occurred on day...

Keratosis follicularis spinulosa decalvans (KFSD) is a hereditary disorder of the hair follicle which presents with scarring alopecia and follicular papules affecting the scalp and other areas of the body. Being X-linked it is more common in males but rarely, can be seen in females. We report this rare disorder in siblings affecting both male and female child. Key-wordsKeratosis follicularis sp...

We describe the first case of the coexistence of the hereditary connective tissue disorder multiple exostoses (HME) and an acquired connective tissue disorder manifest by the overlap of dermatomyositis (DM), scleroderma (PSS), high titre speckled pattern antinuclear antibodies, and increased antibodies to double stranded deoxyribonucleic acid (DNA). Furthermore this patient developed chondrosar...