• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.18 no.1
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• pp.5-12
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• 1988

Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressivity. In the cases, multiple jaw cysts, palmar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthorum have been observed.

• Tuberculosis and Respiratory Diseases
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• v.48 no.1
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• pp.45-53
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• 2000

Background: The literature on variations of rib is limited. Very little has been written in the radiological journal of this country on the subject. It seemed of interest to investigate the nature and incidence of congenital variations in a series of routine chest roentgenograms. The topic of rib variations has not been covered extensively in the radiological journals in Korea. This has presented an opportunity to investigate the nature, type, shape and incidences of congenital rib variations in normal Korean adults from a series of routine roentgenograms. Methods: Chest radiographs of 5,000 adults, who visited our hospital for a routine check-up or for employment physical examinations from January 1996 to September 1998, were consecutively reviewed. The sex distribution consisted of 2,827 male males and 2,173 female females(ratio of 1.3:1) with the age range aged between 19 and 65 years(mean age: 34.6 years) were included. The chest PAs were analyzed for the presence, type, location, and shape of the rib variations. From this data the incidence of each type of variations was calculated. Results: Seventy-six of the 5,000 adults(1.52%), 63 male(2.23%) and 13 female(0.6%), showed 88 cases of rib variation(Table 1). The most common variation was the bifid rib(n=35), followed by hypoplasia of the rib(n=22), flaring of the rib(n=18), bridging of the ribs(n=7), cervical ribs(n=3), and fusion of between ribs(n=3)(Table 2). The bifid rib(Table 1) was found most frequent in the right fourth rib(12/35, 34.3%), followed by the left fifth rib(6/35, 17.1%) and right third rib(6/35, 17.1%). Hypoplasia of the rib was common in first rib(20/22, 90.9%). Flaring of the rib was common at fourth rib(8/18, 44.4%, right and left combined), and bridging between ribs was common between first and second rib(3/7, 42.9%). Conclusion : The percentage of incidence of rib variations in adults was 1.52%. Bifid rib was the most common variation, followed by hypoplasia, flaring, bridging, cervical rib, and fusion of ribs, in decreasing order.

• Journal of Korean Dental Science
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• v.4 no.1
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• pp.33-37
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• 2011

Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits and ectopic calcifications of falx cerebri. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of patients with aggressive basal cell carcinoma and malignant neoplasias. We report here a patient with Gorlin-Goltz syndrome.

• Korean Journal of Veterinary Research
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• v.36 no.2
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• pp.289-296
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• 1996

A case of schistosomus reflexes in Korean native female calf was observed macroscopically and radiographically. The results were summarized as follows. 1. The abdominal visceral organs were exposed. 2. The vertebral column bent laterally to the left, and the sacrum approached to the cranium by reflected caudal lumber vertebrae, presenting S-shaped lateral twisting of the vertebrae. 3. The right ribs reflected laterally and dorso-cranially from the 7th rib to 13th rib. The left ribs bent caudally from 8th rib to 13th rib. 4. The length of rudimentary 6th right rib was one half of normal size and the 7th right rib was one third. 5. The sternum was bifid split from the fourth sternebra through the xyphoid cartilage. 6. The diaphragm was intact and thoracic cavity was reduced in size. The lung and heart severely deformed in shape and size. 7. The liver markedly deformed in shape and thickness. 8. The pelvic cavity was reduced in size by compression laterally to the left. 9. The uterus horn, ovary, urinary bladder, and urethra were severely deformed in the shape and position.

• Archives of Craniofacial Surgery
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• v.22 no.2
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• pp.122-125
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• 2021

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. His clinical features of jaw cysts, bifid ribs, and calcification of the falx cerebri were fitting within the criteria for the diagnosis of BCNS. We excised all suspected macules and sent permanent biopsy. Most of the histological examinations of the biopsy samples taken during surgical excision of the face masses showed basal cell carcinomas. Ten months after the surgery, the patient has remained free from symptoms and is undergoing follow-up observation.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.1
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.6
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• pp.292-297
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.

• Clinical and Experimental Pediatrics
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• v.50 no.8
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• pp.789-793
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• 2007

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.31 no.5
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• pp.429-434
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• 2009

Basal cell nevus syndrome is a rare inherited disorder characterized by mulitple cutaneous basal cell carcinoma, pits of the palms and soles, cysts of the jaws, skeletal abnormalities and ectopic calcifications. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus early allowing an early diagnosis of these patients. We report a case of a 9-year-old boy with the various manifestation of basal cell nevus syndrome, which are multiple odontogenic keratocysts, pits of the soles, bifid ribs, ectopic calcification, macrocephaly, and hypertelorism, etc. Total five odontogenic keratocysts were found. For the reduction of the size of the odon-togenic keratocysts, following preoperative marsupialization, there were surgically enucleated. And the impacted upper right lateral incisor and canine are tracted orthodontically.