Familial occurrence of non syndromic supernumerary premolar tooth: A case report

Objective In this case report, we present an unusual combination of three congenital malformations: median cleft of the lower lip, lip pits, and unilateral cleft of the lip and palate without familial occurrence. Conclusions From an etiological point of view, this combination of malformations could have happened during the late embryogenic period. Why this combination is uncommon is not known.

Download Full-text

Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

Clinical Medicine Insights Arthritis and Musculoskeletal Disorders ◽

10.4137/cmamd.s7035 ◽

2011 ◽

Vol 4 ◽

pp. CMAMD.S7035 ◽

Cited By ~ 7

Author(s):

M.A. Aghdashi ◽

M.M. Aghdashi ◽

M. Rabiepoor

Keyword(s):

Case Report ◽

Young Woman ◽

Pelvic Pain ◽

Autosomal Dominant ◽

Family Members ◽

Familial Occurrence ◽

Autosomal Dominant Pattern ◽

Dominant Pattern ◽

Radiological Examinations

Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter.

Download Full-text

Adult unilateral moyamoya disease with familial occurrence in two definite cases: a case report and review of the literature

Neurosurgical Review ◽

10.1007/s10143-005-0406-5 ◽

2005 ◽

Vol 29 (1) ◽

pp. 82-87 ◽

Cited By ~ 12

Author(s):

Noboru Kusaka ◽

Takashi Tamiya ◽

Yoshiaki Adachi ◽

Shinji Katayama ◽

Shimpei Namba ◽

...

Keyword(s):

Case Report ◽

Moyamoya Disease ◽

Familial Occurrence ◽

Review Of The Literature ◽

Unilateral Moyamoya Disease

Download Full-text

Multiple Supernumerary Premolars in Two Siblings: A Case Report

Primary Dental Care ◽

10.1308/135576109788634313 ◽

2009 ◽

Vol os16 (3) ◽

pp. 111-115

Author(s):

Shiu-Yin Cho

Keyword(s):

Primary Care ◽

Case Report ◽

Genetic Factors ◽

Familial Occurrence ◽

Supernumerary Teeth ◽

Environmental Causes

The presence of three or more supernumerary teeth in one patient is uncommon. Genetic as well as environmental causes have been suggested as possible aetiological factors in the pathogenesis of supernumerary teeth. This report describes the dental findings and management of multiple supernumerary premolars in two siblings. The number and locations of the supernumeraries in both cases were almost identical. The findings from these cases give further support to the important role of genetic factors in the aetiology of supernumerary teeth. Primary care dentists who treat children should be aware of the possibility of familial occurrence of supernumerary teeth.

Download Full-text

Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36652 ◽

2014 ◽

Vol 164 (9) ◽

pp. 2276-2286 ◽

Cited By ~ 32

Author(s):

Morten Herlin ◽

Allan T. Højland ◽

Michael B. Petersen

Keyword(s):

Case Report ◽

Familial Occurrence ◽

Review Of The Literature

Download Full-text

Head tremor related to CACNA1A mutations

Cephalalgia ◽

10.1177/0333102411414442 ◽

2011 ◽

Vol 31 (12) ◽

pp. 1315-1319 ◽

Cited By ~ 6

Author(s):

Rianne PJ Geerlings ◽

Peter J Koehler ◽

Danielle YP Haane ◽

Anine H Stam ◽

Boukje de Vries ◽

...

Keyword(s):

Case Report ◽

Familial Hemiplegic Migraine ◽

Familial Occurrence ◽

Hemiplegic Migraine ◽

Head Tremor ◽

Mutation Carriers ◽

Cacna1a Gene ◽

Cerebellar Symptoms

Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1–3 mutation carriers, including epilepsy and cerebellar symptoms. Case report: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene. Discussion: CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.

Download Full-text