Cleft lip and cleft palate in Jangxi province: A case-control study on familial occurrence of 1 967 cases / 实用口腔医学杂志

Objective:To assess whether familial occurrence has an influence on the morphological characteristics of patients with nonsyndromic cleft lip and/or palate (NsCL/P).Methods:A case-control analysis was performed on the morphological characteristics of familial group and sporadic group,using medical records of 1967 patients with NsCL/P treated in the Affiliated Stomatological Hospital of Nanchang University from 2002 to 2014.Results:164 (8.34％) cases presented a positive history of cleft in their families.The cleft types,the positive familial rate of cleft lip only (CLO),cleft lip and alveolar ridge(CLA),cleft lip and palate (CLP) and cleft palate only (CPO) were 8.11％,8.54％,6.19％ and 9.65％ respectively.A positive family history of NsCL/P was associated with 0.66 times risk of CPO (P =0.036,OR =0.66,95％ CI 0.44-0.98) compared to those of CLO,CLA and CLP.In familial group of CLP,the lateral incidence of male patients was different from that of female patients (P ＜ 0.001).There was no significant difference between familial group and sporadic group on birth weights,parental child-bearing age and clinical manifestations of patients.Conclusion:Familial occurrence might have an influence on cleft type,laterality and gender of the patients with NSCL/P.

Unusual transmigration of canines: report of two cases in a family

Introduction: Transmigration is pre-eruptive migration of tooth across the midline. The etiology of this rare anomaly is unknown. Transmigration is largely related to mandibular canines. Although maxillary canine transmigrations are found in the literature, they are still a rare entity. Objective: The aim of the present paper is to report two cases of unusual transmigrations of canines in two immediate members of a family and to report the first case of simultaneous transmigration of maxillary and mandibular canines in an Indian adolescent. Case report: A rare case of simultaneous transmigration of maxillary and mandibular canine in Indian adolescent along with bilateral transmigration of mandibular canines in her father is described here. Conclusion: Transmigration of canines in two immediate members of family needs to be further studied for familial occurrence of transmigration.

Familial Isolated Accessory Tragi / 대한피부과학회지

Accessory tragi are an unusual congenital disorder, which are derived from a developmental abnormality of the first branchial arch. They appear at birth as soft or firm skin-colored papules or nodules, usually located in front of the auricle. There was no report of familial accessory tragi in Korean literature. Herein, we present two cases of familial accessory tragi occurring in a brother and a sister.

Familial Occurrence of Moyamoya Disease - Report of Two Cases - / 대한뇌혈관외과학회지

Moyamoya disease is a rare occlusive cerebrovascular disease characterized by stenosis or occlusion of the main cerebral arteries. It has a tendency for multifactorial inheritance and familial occurrence, although its pathogenesis is not clear. We observed this disease in two girls from the same family:one was eight years old and the other was 45 months. They presented with transient ischemic attacks. We performed cerebral angiography on both patients and magnetic resonance angiography (MRA) on the younger. Both approaches showed the typical features of moyamoya disease, and MRA successfully revealed abnormal findings specific for the disease in the second child. Both children received encephaloduroarteriosynangiosis (EDAS) and this produced good results. MRA is thus a powerful and noninvasive way of detecting individuals at high risk of developing this disease. Considering the reported familial incidence of moyamoya disease in Japan, a careful search for family members using MRA would probably reveal many more such cases in Korea.

Familial Isolated Noncompaction of the Ventricular Myocardium in Asymptomatic Phase

Isolated noncompaction of the ventricular myocardium (INVM) is a rare cardiomyopathy resulting from a failure of normal endomyocardial embryogenesis and it has been categorized as a form of unclassified cardiomyopathy. The disorder is characterized by an excessively prominent trabecular meshwork with deep intertrabecular recesses. Although the disorder is sporadic, familial incidence may occur. Clinical symptoms and prognosis of INVM may differ markedly, and range from an asymptomatic course to a severe cardiac disability. The diagnostic method of choice for IVNM is echocardiography, which reveals multiple prominent trabeculations with deep intertrabecular spaces communicating with the left ventricular cavity in the middle and apical segments of the left ventricle. The authors report a case of INVM in a family in which three adult members (a brother and two sisters) were found to be affected by this disorder. They were all asymptomatic. The diagnosis of the disorder was made first in the 36-year-old brother by transthoracic echocardiography (TTE) and multidetector CT (MD CT), during the process of preoperative evaluation for surgical treatment of low back intervertebral herniated disc. TTE and MD CT showed similar and peculiar findings of INVM. Echocardiographic screening in all first-degree relatives of this patient, in order to identify asymptomatic patients, demonstrated INVM in two elder sisters.

A Case of Multiple Familial Seborrheic Keratoses / 대한피부과학회지

Seborrheic keratoses are benign skin tumors and exceedingly common. The etiology of seborrheic keratoses is unknown. Several possible causes such as genetic propensity, sun exposure, human papillomavirus and epidermal growth factors are suggested. Among these findings, their familial occurrences have been rarely reported in the literature. We report a case of early-onset, multiple, familial seborrheic keratoses in a 36-year-old man.

Familial Occurrence of Cerebellar Gliomas

Several cases of familial occurrence of gliomas have been reported, but little has been known on the importance of genetic factors, which indeed remains controversial. In establishing the genetic basis for cancer susceptibility, the evaluation of a single family is perhaps the most satisfactory and meaningful approach. We report a family in which the 47-year-old father had glioblastoma in cerebellar vermis and his 14-year-old daughter developed pilocytic astrocytoma in cerebellar hemisphere. Karyotypic analysis of this family showed no abnormal findings in chromosomes.

Two Cases of Moyamoya Disease Occurred in a Family

Moyamoya disease is a rare obstructive cerebrovascular disease characterized by a cerebral angiographic picture of bilateral stenosis or occlusion of main cerebral arteries with an abnormal vascular network at the base of the brain. Although its pathogenesis is not clear, there is extensive evidence that this disease has tendency to show inheritance and familial occurrence. We have experinced such two cases of moyamoya disease. One was 4-year-old boy who had a history of TIA and bilateral hemiparesis(CaseI) and another was 8-year-old boy. The older brother of the Case I had unilateral symptom. They were treated with EDAS and split duroence-phalosynangiosis and had good results in their neurologic and postoperative angiographic state.

Pityriasis Rotunda with Familial Occurrence

Pityriasis rotunda is an uncommon chronic dermatosis characterized by multiple, round or oval, hyperpigmented or hypopigmented patches that have a fine scale on the trunk and extremities. Most of the cases reported predominantly occurred in Oriental and black patients in association with internal disease. However, in Caucasians it has been documented in healthy persons usually as a familial tendency. We report a case of pityriasis rotunda which showed familial occurrence and had no underlying disease.

Familial Occurrence of Von hippel-Lindau Disease: Case Report

Hemangioblastoma is an uncommon tumor of the central nervous system, accounting for only 1 % to 2.5% of all intracranial neoplasms. Hemangioblastoma can occur either sporadically or as a manifestation of von Hippel-Lindau diseasean inherited disorder of the autosomal dominant trait-characterized by tumors or tumor-like lesions developing in several organs including angioma of retina, pheochromocytoma, cyst or carcinoma in kidney and pancreas. We have encountered a family in which two male members were histologically diagnosed as suffering from von Hippel-Lindau disease and another male member was clinically suspected of suffering from spinal hemangioblastoma. The pathophysiology and genetic aspect of von Hippel-Lindau disease are discussed with review of literatures.

Familial Occurrence of Meningiomas

The familial occurrence of meningiomas without evidence of neurofibramatosis was very rare. Recently, we experienced a family in which a mother and a daughter had histologically similar tumors. There was no evidence of von Recklinghausen's neurofibromatosis in either of the subjects or in other members of their family who were examined. The evidence to support heritability of meningiomas in the general population remains inconclusive, by gentic factors contribute to the etiology of meningiomas in isolated families.

Intracranial Aneurysms in Identical Twins: Case Report

Intracranial aneurysms are usually regarded as congenital in origin but their etiology is unknown. The occurrence of familial aggregation of intracranial aneurysm is rare but well documented, and suggests a hereditary basis for some intracranial aneurysms. We experienced two cases of intracranial aneurysm in monozygotic twin brothers and reviewed literatures.