Nevoid basal cell carcinoma syndrome: a 40-year study in the South African population.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant syndrome presenting with a number of signs and symptoms in different population groups. METHODS: The investigators implemented a 40-year retrospective analysis of the clinical and radiological features of South Africans affected by NBCCS presenting at the Departments of Oral Surgery, Pathology and Radiology of two major referral hospitals. Details of age, gender, ethnic origin, clinical, and radiological findings were recorded and compared to previous reports. A list of diagnostic criteria for diagnosis of NBCCS in this population was complied. Descriptive statistics were computed, and the P value was set at 0.05 or less. RESULTS: The sample was composed of 15 patients. The mean age at the time of diagnosis was 22.7years (SD 20.9) with eight (53.3%) patients diagnosed before 20years of age (P=0.0001). The male: female ratio was 2:1. The most frequent major criteria were keratocystic odontogenic tumors (KCOTs) (100%), calcification of falx cerebri (40%), palmo-plantar pits (26.7%), and basal cell carcinomas (BCCs) (20%). The most frequent minor criteria were bifid ribs (20%), skull anomalies (20%), and hypertelorism (20%). CONCLUSIONS: The results of this study indicate that there was a low frequency of falx cerebri calcifications, BCCs, skull, and rib anomalies in this sample compared to other population groups. These differences could be attributed to genetic, racial, and environmental factors. Future studies are needed to compile diagnostic criteria specific to different population groups.

Normal values of medial and lateral canthal distances in 3 to 18 year-old Nigerians.

BACKGROUND: This study was carried out on male and female Nigerians whose age ranged from 3 to 18 years in order to provide a database of canthal measurements for a predominantly black population and compare them with Caucasians. STUDY DESIGN: All the healthy pupils and students were randomly selected. The ages of the children, adolescents and young adults were approximated to their nearest birthdays. Two different researchers measured each parameter and the mean values were recorded. SETTING: Nursery, primary, secondary schools and the University of Benin, in Benin City, Nigeria. RESULTS: Four hundred and sixty eight males (53.4%) and 408 (46.6%) females making up a total of 876 subjects were studied. The mean values for medial canthal distance for male Nigerians are slightly higher than those established for male Caucasians and these differences are significant (p>0.05). There was no significant difference in the lateral canthal distance between the two groups (p<0.05). Nigerian and Caucasian females have significant difference (p>0.05) in mean values for medial canthal distances but not in lateral canthal distance (p<0.05). The difference in these distances between Nigerian males and females are not significant. Weight and lateral canthal distance showed a covariance of 6.980 while age and lateral canthal distance, age and medial canthal distance showed a covariance of 2.970 and 1.140 respectively. There was no correlation between age, height, weight and the distances measured. CONCLUSION: Medial canthal distances between male and female Nigerians compared to males and female Caucasians show significant variations but not in the lateral canthal distances.

Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals.

This article describes a pooled analysis of Korean individuals with nevoid basal cell carcinoma syndrome (NBCCS). The data upon which this review is based has been retrieved from published case reports in Korean dental and medical literature between the years 1981 to 2002. We found 33 subjects who met the diagnostic criteria for NBCCS. Relative frequencies of associated complications are presented and compared with those of the English literature. Odontogenic keratocyst (OKC) and palmar and/or plantar pits, and hypertelorism were the most frequently observed anomalies. OKCs are often the first signs of NBCCS and can be detected in patients younger than 20 years of age. However, the incidence and clinical manifestations of NBCCS in Korean individuals were found to be rather different from those of other countries. The relatively low frequency of basal cell carcinomas and falx calcification among the major criteria were two major differences. The frequencies of the minor criteria concur in general with the ranges given by some others. It is concluded that these differences may be attributed to genetic and geographic differences.

Cranio-metaphyseal dysplasia.

Cranio-metaphyseal dysplasia in two brothers, aged fourteen and twelve, is reported. Both brothers presented with deafness, repeated episodes of cold and cough and mouth breathing. Striking craniofacial configuration consisted of hypertelorism, prominent glabella and zygomatic arches, mandibular prognathism and overgrowth of middle third of face. Both patients had genu valgum deformity. Low intelligence and poor scholastic performance present in both brothers were attributed to deafness. Radiographic features consisted of obtuse mandibular angle, defective dentition, sclerotic frontal sinuses, sclerotic mastoids and temporal bones. Splaying of metaphyses of long bones was associated with mild sclerosis. Mild degree of widening of ribs was also present. One brother also had hallux valgus deformity. The radiographic and clinical differentiation of cranio-metaphyseal dysplasia and metaphyseal dysplasia (Pyle's disease) is highlighted.

An objective assessment of treatment for orbital hypertelorism.

A retrospective statistical analysis of orbital hypertelorism correction was performed by comparing the preoperative and postoperative intercanthal distances of these patients with published age-matched normal values. Forty-five patients who had undergone surgery over a 15-year period with an average follow-up of 5 years (6 months to 14 years) were evaluated. Comparison of age-normalized preoperative and postoperative intercanthal distances revealed a significant difference for orbital hypertelorism patients as a group (p < 0.0001), patients with clefts (p < 0.0001), patients with nasoencephalocele (p < 0.01), and patients with frontonasal dysplasia (p < 0.05), but not for those patients with craniofacial dysostosis (p < 0.20). Multiple analyses of variance revealed a significant interaction existing between the extent of preoperative deformity and the cause of hypertelorism for both the postoperative deformity and the total amount of correction achieved, but not for the type of surgery or for the age at which the surgery was performed.

Síndrome de Aarskog (Síndrome Facio - Dígito - Genital): primer caso en Venezuela / The Aarskog syndrome (facio-digito-genital syndrome): first case in Venezuela

Este síndrome fue descrito por primera vez por Dagfinn Aarskog en 1970; de allí que lleve su nombre, y está caracterizado desde el punto de vista clínico por: baja estatura, dismorfismo facial, anomalías genitales y digitales. C.I. Sugarman en 1974 propuso el término de síndrome facio - dígito - genital con el que también se le conoce. Posteriormente se han descrito varias familias con uno o más miembros afectados, generalmente varones por lo que el tipo de herencia más aceptado es la herencia recesiva ligado al crosoma X, aunque se han descrito mujeres con expresividad mínima. El presente trabajo reporta un niño de 10 años, quien presenta facies peculiar, escroto hendido, criptorquidia, anomalías en manos y pies e hipertricosis generalizada. No hay otros afectados en la familia, ni consanguinidad entre los padres. Se revisan las características clínicas, el diagnóstico, diferencial y el pronóstico del síndrome