Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known exactly, but three types have been distinguished; irregular dominant, sex linked recessive, and simple recessive patterns. We observed 15 patients with family history and analyzed the characteristics of their inheritance patterns. We concluded the patterns of inheritance are irregular X-linked or autosomal dominant inheritance with incomplete penetrance in 7 families(47%), X-linked recessive or autosomal dominant inheritance in 5 families(33%), and autosomal dominant inheritance in 3 families(20%), respectively.
Humans ; Inheritance Patterns ; Parturition ; Penetrance ; Wills*

Paroxysmal choreoathetosis(dyskinesia) is classified into two subtypes: paroxysmal kinesigenic choreoathetosis(PKC) and paroxysmal dystonic choreoathetosis(PDC). PDC consist of attacks of dystonia and /or choreoathetosis during which the patients are dysarthric or anarthric, have irregular clonic movement and dystonic posturing of extremities, and these not precipitated by sudden movement but rather by alocohol, coffee and stress. Attacks are longer (2ninute-4hours), but less frequently(3-4times/day) than PKC, they are not responsive to anticonvulsants(eg, phenytoin, carbamazepine) but controlled by clonazepam.This disease is rare, in the reported families, the transmission was clearly autosomal dominant with high penetrance.
Coffee ; Dystonia ; Extremities ; Humans ; Penetrance ; Phenytoin

Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission. A small number of observations indicate autosomal dominant inheritance with either complete or incomplete penetrance. To date, autosomal dominant SMA with complete penetrance in more than 4 generations has been reported very rarely. It is the Purpose of this report to decribe a family with familial SMA presenting as an autosomal dominant trait with occurrence in 4 subsequent generations. This may be the first report in Korea.
Family Characteristics ; Humans ; Korea ; Muscular Atrophy, Spinal* ; Penetrance ; Wills*

Peutz-Jeghers syndrome is a familial syndrome consisting of mucocutaneous pigmentation and gastrointestinal polyposis and appears to be inherited as a single pleiotropic autosomal dominant gene with variable and incomplete penetrance. Cases of hamartomatous polyps of the Peutz-Jeghers type without Peutz-Jeghers syndrome have only rarely been reported. Moreover, only one case of a Peutz-Jeghers polyp at the appendix has been reported; it was resected by appendectomy. We report here on a case of a 45 year old man who had a hamartomatous polyp of the Peutz-Jeghers type arising from the appendix. The polyp was successfully removed by endoscopic polypectomy. To our knowledge, this is the first case of a hamartomatous polyp of the Peutz-Jeghers type that originated from the appendix and that was resected endoscopically.
Appendectomy ; Appendix ; Genes, Dominant ; Penetrance ; Peutz-Jeghers Syndrome ; Pigmentation ; Polyps

Neurosurgical intervention in the syndrome is discussed in the light of two recently treated cases, one of which was admitted due to acute hydrocephalic attack, the other was confirmed by the typical computed tomographic findings as well as the classic triad of adenoma sebaceum, mental retardation and epilepsy. There cases had no family historty and were probably the result of new mutations and variable penetrance. Transcallosal microsurgical excision of tumor was accomplished in both cases and subependymal giant cell astrocytoma was confirmed. The hydrocephalus resolved but subduroperitoneal shunt was required in one case.
Astrocytoma* ; Epilepsy ; Humans ; Hydrocephalus ; Intellectual Disability ; Penetrance ; Tuberous Sclerosis*

Reed's syndrome is a rare, autosomal dominant disease with incomplete penetrance that is characterized by uterine and cutaneous leiomyomas. We report a case of Reed's syndrome in a 50-year-old woman. The patient underwent removal of the uterine leiomyoma at the age of 36. Following this the patient noticed development of multiple, cutaneous nodules on both arms at the age of 45. These nodules progressively increased in both number and size, while appearing in other sites. The histopathologic finding of an isolated, single skin lesion showed typical leiomyoma arising from arrector pilorum muscle. Familial history revealed that her father had been affected with similar cutaneous lesions.
Arm ; Fathers ; Female ; Humans ; Leiomyoma ; Leiomyomatosis* ; Middle Aged ; Penetrance ; Skin

Retinoblastoma has been established as an inheritable disease. To the development of sporadic cases the mutation can be ascrivable. Once the gene has been established, however, it is transmitted as an autosomal dominant characteristics with incomplete penetrance. The cases reported here was established in siblings which are of the extremely rare entities. Two families are reported here, which is one of the rare occurence. 1st. Family: The retinoblastoma affect 4 siblings(male, 2. female, 2) in 8 siblings(male, 3. female, 5). Of this 4 cases, 3 died of progression of retinoblastoma, while the one left was in apparent good health with early enucleation. 2 nd. family: Retinoblastoma existed in two siblings(male, 1. female, 1). The male dead 1 year after diagnosis of retinoblastoma and the other one refused radical treatment and lost in follow up.
Diagnosis ; Female ; Follow-Up Studies ; Humans ; Male ; Penetrance ; Retinoblastoma* ; Siblings

Punctate palmoplantar keratoderma(PPK), also called Buschke-Fisher-Brauer disease, is an autosomal dominant disease with variable penetrance. Clinically there are multiple tiny punctate keratoses over the entire palmoplantar surfaces. Lesions are discrete and diffuse, may be symmetrical, and may be few or many in number. We report a case of punctate palmoplantar keratoderma in 20-year-old female patient.
Female ; Humans ; Keratoderma, Palmoplantar* ; Keratosis ; Penetrance ; Young Adult

Punctate palmoplantar keratoderma(PPK) is a rare disease, characterized by small, hard hyperkeratotic papules which are irregularly distributed on the palms and soles. PPK is an autosomal dominant disease with variable penetrance. We report a case of sporadic case of punctate palmoplantar keratoderma in a 26-year-old female patient.
Adult ; Female ; Humans ; Keratoderma, Palmoplantar* ; Penetrance ; Rare Diseases

Otosclerosis is a primary metabolic bone disease of the otic capsule and ossicles. It is one of the causes of acquired hearing loss, with clinical manifestations occurring in approximately 1% of individuals in some populations in the Western countries. Although the cause of otosclerosis is undetermined, the disease has a well established hereditary predisposition, with approximately half of all affected individuals having family members known to be affected. Many genetic studies of otosclerosis support an autosomal dominant mode of inheritance with penetrance in the range of 20-40%. There have been a few reports of the clinically suspicious otosclerosis cases in Korea, but otosclerosis having familial forms have not been reported. We report one case of familial otosclerosis.
Bone Diseases, Metabolic ; Hearing Loss ; Humans ; Korea ; Otosclerosis* ; Penetrance ; Wills