A 7-year-old boy had an unusual association of median cleft-face syndrome, a characteristic physiognomy, unilateral retinal dysplasia, and bilateral retinal detachment. Despite surgical treatment to both eyes he became blind. The hereditary pattern operating in this complex disorder was found to be consistent with an autosomal dominant trait.

We describe for the first time retinal changes in sickle cell/hereditary persistence of fetal haemoglobin syndrome, which is a rare and benign disorder. The changes are qualitatively similar to retinal disease seen with sickle haemoglobin and sickle C haemoglobin, but are mild.

Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase. It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors. We report a 12 year old male child with acute intermittent porphyria, who presented with encephalopathy and transient blindness of cerebral origin.

Osler–Weber–Rendu syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is an autosomal dominant disorder. Telangiectasias and Arterio-Venous Malformations (AVMs) are vascular lesions present in HHT, most commonly causing epistaxis and gastrointestinal bleeding. While epistaxis presents as early as childhood, the gastrointestinal manifestations of HHT develop with increasing age.

BACKGROUND: Approximately one out of every 10 ovarian cancers is caused by inherited mutations in identified genes. The characterization of hereditary ovarian cancer as an autosomal dominant disorder of specific gene mutations is more specific and useful than descriptive clinical syndromes such as "Lynch II," "site-specific ovarian cancer," or "breast-ovarian cancer." METHODS: The author review...

Recent developments in molecular and human genetics have increased interest in genetics. Clinical genetics is involved in the diagnosis, management, and control of hereditary disorders and has emerged as an important discipline in small animal practice for several reasons. Effective preventative measures reduced the frequency of infections, nutritional disturbances, and intoxications. Furthermo...

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar...

Introduction Familial Mediterranean fever (FMF) is the most common hereditary disorder among Armenians. It manifests mainly in childhood and represents a significant health care pediatric problem. The clinical picture of FMF and vasculitis have much in common: fever, abdominal pain, arthritis, myalgia, skin lesions. Numerous data indicate a higher incidence of vasculitis in FMF patients, compar...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.

Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist.