Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome / 浙江大学学报·医学版

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.

Cervical rib which resembles original thoracic rib presenting with thoracic outlet syndrome (TOS): literature review with a case report / Costilla cervical que se asemeja a una costilla torácica presentándose con síndrome de salida torácica (SST): revisión de la literatura a partir de un caso clínico

The cervical rib (CR) is a rare skeletal anomaly, which generally articulated with the transverse process of the 7th cervical vertebra, and commonly lead to compression of neurovascular structures in the region of the thoracic outlet. CRs are divided into 2 classes as complete and incomplete forms. A clarifying description of the so-called complete CR form has not been found with sufficient information in the literature. We aimed to present a novel case of an anomalous, supernumerary, extra, or additional rib which arises from the seventh cervical vertebra. We present the case of a 23-year-old female who presented with a mass described as slowgrowing since her childhood in the supraclavicular region. The patient complained of pain, numbness, weakness, and difficulty in lifting her right arm, which increased gradually over in the last 6 months. Physical examination revealed findings of thoracic outlet syndrome (TOS). Radiographic analysis demonstrated a huge cervical rib, which resembles the size of a real thoracic rib. The cervical rib was completely resected through the supraclavicular approach. There is not enough data in theliterature about different morphologic properties of CRs. It is presented with 3-D CT images before and after surgical resection. The final version of the transformation of C7 transverse process to an original Thoracic Rib is shown. As a result, the following question presented, can it be called a Zeroth Rib?.

La costilla cervical (CC) es una anomalía esquelética rara, que generalmente se articula con el proceso transverso de la séptima vértebra cervical y generalmente conduce a la compresión de estructuras neurovasculares en la región de salida torácica. Las CC se dividen en 2 clases, como formas completas e incompletas. No se ha encontrado una descripción aclaratoria de la forma completa de CC, con información insuficiente en la literatura. El objetivo de este trabajo fue presentar un nuevo caso de costilla anómala, supernumeraria, extra o adicional que surge de la séptima vértebra cervical. Exponemos el caso de una mujer de 23 años que presentó una masa descrita como de crecimiento lento desde su infancia en la región supraclavicular. La paciente relató dolor, entumecimiento, debilidad y dificultad para levantar el miembro superior derecho, con un aumento gradual de sus síntomas en los últimos 6 meses. El examen físico reveló hallazgos del síndrome de salida torácica (SST). El análisis radiográfico demostró una costilla cervical de tamaño importante, que se asemejaba al tamaño de una costilla torácica real. La costilla cervical fue resecada completamente a través de un abordaje supraclavicular. No hay suficientes datos en la literatura sobre las diferentes características morfológicas de las CC. Se presentan imágenes tridimensionales de tomogracía computarizada, antes y después de la resección quirúrgica. Se muestra la versión final de la transformación del proceso transverso de C7 a una costilla torácica original. Como resultado, se plantea la siguiente pregunta, ¿se puede denominar a esta costilla como "costilla cero"?.

Síndrome lumbocostovertebral: primer reporte de caso en Argentina / Lumbocostovertebral syndrome: first case report in Argentina

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.

Poland's syndrome with unusual hand and chest anomalies: A rare case report.

Poland’s syndrome is a rare congenital anomaly consisting of a unilateral absence of the pectoralis major, ipsilateral muscle, hand anomaly and occasionally associated other malformations of the chest wall and breast. Many structural and functional abnormalities have been described in association with this syndrome. We report an incidentally diagnosed case in a 27-year-old male patient who presented to us with symbrachydactyly. In addition to this, anterior depression of 2nd, 3rd and 4th ribs and bifid (forked) 5th rib was present on radiological investigations. The body of sternum was short and deformed on the right side with absence of xiphoid process. All middle phalanges were absent on right hand. It is a rare variant of Poland’s syndrome.

Costela intratorácica: relato de caso / Intrathoracic rib: a case report

Costela intratorácica é definida como uma anomalia congênita rara, possivelmente causada por uma fusão incompleta dos processos cefálico e caudal dos esclerótomos durante a embriogênese. Frequentemente é achado incidental, porém, pode estar associada a malformações vertebrais e a alguns sintomas como dor torácica. O quadro apresentado é de costela intratorácica à esquerda, associada a malformação vertebral, com quadro clínico inespecífico.

Intrathoracic rib is defined as a rare congenital anomaly, possibly caused by an incomplete fusion of cephalic and caudal processes of sclerotomes during embryogenesis. Frequently, such abnormality is incidentally found, but may be associated with vertebral malformation and some symptoms such as chest pain. The authors report the case of a patient with left-sided intrathoracic rib in association with vertebral malformation, with a non-specific clinical picture.

Caffey disease or infantile cortical hyperostosis: a case report

Caffey disease or Infantile Cortical Hyperostosis [ICH] is a rare and mostly self limiting condition affecting young infants. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by systemic changes of irritability and fever. Diagnosis may be delayed as this disorder mimics a wide range of diseases including osteomyelitis, hypervitaminosis A, scurvy, bone tumors and child abuse. The emphasis here is to remind clinicians about the existence of the disease in this country

Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural / Spondylocostal dysostosis associated with neural tube defects

OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar. Na avaliação, apresentava hipotonia, baixa estatura, dolicocefalia, fendas palpebrais oblíquas para cima, pregas epicânticas e tronco curto com tórax assimétrico. A avaliação radiográfica revelou hemivértebras múltiplas, vértebras em borboleta e fusão e ausência de algumas costelas. Paciente 2: menina branca, 22 meses, com moderado atraso do desenvolvimento neuropsicomotor, baixa estatura, olhos profundos, pregas epicânticas, pescoço e tronco curtos com assimetria do tórax, abdome protruso, hemangioma plano na altura da transição lombossacra e fosseta sacral profunda no dorso. A avaliação radiográfica identificou hemivértebras, fusão incompleta de vértebras e vértebras em borboleta, malformações de costelas e espinha bífida oculta em L5/S1. Paciente 3: menina branca, 9 dias de vida, com fendas palpebrais oblíquas para cima, ponte nasal alargada, orelhas baixo implantadas e rotadas posteriormente, tronco curto, tórax assimétrico e meningocele tóraco-lombar. A avaliação radiográfica evidenciou hemivértebras, malformação e ausência de algumas costelas e agenesia diafragmática à esquerda. A tomografia computadorizada de encéfalo mostrou estenose de aqueduto. COMENTÁRIOS: Vários defeitos de fechamento do tubo neural, de espinha bífida oculta a grandes mielomeningoceles, são observados em pacientes com DEC, indicando que tais pacientes devem ser cuidadosamente avaliados quanto à possível presença desses defeitos.

OBJECTIVE: To highlight the relationship between neural tube defects and spondylocostal dysostosis (SCD) through the description of three patients. CASES DESCRIPTION: Patient 1: white girl, 22 months old, born with a lumbar meningomyelocele. At evaluation, she presented hypotonia, short stature, dolichocephaly, upslanting palpebral fissures, bilateral epicanthal folds, and short trunk with an asymmetric thorax. Radiographic examination showed multiple hemivertebrae, butterfly vertebrae, fusion and absence of some ribs. Patient 2: white girl, 22 months old, with moderate neuropsychomotor delay, short stature, deep set eyes, bilateral epicanthal folds, short neck and trunk with an asymmetric thorax, protruding abdomen, hemangioma at the level of lumbosacral transition and deep sacral dimple. The radiographic evaluation showed hemivertebrae, incomplete fusion of vertebrae and butterfly vertebrae, costal malformations and spina bifida occulta in L5/S1. Patient 3: white girl, nine days old, with upslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and posteriorly rotated ears, short trunk with asymmetric thorax, and thoracolombar meningocele. Radiographic evaluation showed several hemivertebrae, malformation, absence of some ribs, and diaphragmatic agenesia at left. Brain tomography showed an aqueductal stenosis. COMMENTS: Several neural tube defects, from spina bifida occulta to large meningomyelocele, are observed in patients with SCD. Thus, these patients should be carefully evaluated regarding the possible presence of such defects.

Bifid Rib: Anatomical Considerations in Three Cases

The present study involved a detailed investigation of 3 cases of bifid rib, focusing on anatomical features, and classified them into 2 types. The bifid ribs were in the right fourth rib of all 3 male cadavers. The upper intercostal spaces of the fourth bifid rib were considerably narrowed, whereas the lower intercostal spaces were widened. Although the size and shape of the bifid space between the upper and lower divisions of the bifid rib were different, the intercostal muscles were present in the bifid space in all cases. The third anterior intercostal artery from the internal thoracic artery supplied the bifid space in all cases. In 2 cases, the fourth intercostal nerve ran along the inferior margin of the fourth bifid rib and innervated the muscles of the bifid space. In the third case, there was another branch from the third intercostal nerve supplying the muscles of the bifid space as well as the fourth intercostal nerve. The bifid ribs are associated with other diseases or develop accidentally or sporadically. Knowledge of this malformation is needed for the differential diagnosis with other diseases, such as a chest wall tumor or costal fracture.

Pulmonary complications of concave rib osteotomies in scoliotic patients

Operations such as anterior or posterior releases can be used to decrease the magnitude of spinal curves. Concave rib osteotomy is an example of posterior release. Pulmonary complications are the main complications of this operation and the major cause of related morbidities. In this study, the frequency of pulmonary complications was evaluated. Pulmonary complications of concave rib osteotomies were studied in a series of 14 patients at Sina Hospital in a 2-year period [2001-2003]. Eight patients were females and 6 were males. During the operation, 3 cases of pleural tear were detected and chest tubes were inserted for them. No cases of pneumothorax and only 1 case of asymptomatic pleural effusion were detected postoperatively. This operation is a simple procedure. If the valsalva maneuver is used and pleural tears are detected intraoperatively, pulmonary morbidities will not increase significantly

Lung functions after correction of scoliosis angle

In this study we evaluated lung volumes, volume changes relative to Cobb angle and correlation of volume changes with Cobb angle changes before and after the surgery. Eighteen non-smoker patients with idiopathic scoliosis were included in this descriptive observational study. Cobb angle, lung volume and flow were measured before and after the surgery. To assess height and weight changes during the follow-up period, we used the percent relative to normal [percent predicted] instead of absolute volumes. Eighteen of 30 selected patients were included. The mean follow-up period was 34.5 +/- 19.6 months. Dynamic volume changes of lung were: VC= -13.4 SD=8.6 [p < 0.005]; FVC=-9.22 SD=14 [p < 0.001]; FEV1=9.8 SD=15 [p < 0.001]. There was a weak correlation between the mean value of dynamic volume changes and the mean changes in Cobb angle after the surgery. There was a weak correlation between Cobb angle and dynamic volume of lung before the surgery. In this study there was a significant decrement of dynamic lung volumes after corrective surgery for thoracic curve scoliosis

Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

Jarcho-Levin syndrome.

Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.

Nevoid basal cell carcinoma syndrome.

Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS). NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

[ teratogenic effect of lamotrigine on vertebral column, sternum and ribs of mice fetus]

One of the most important complications of anti-epileptic drugs [AEDs], used during pregnancy, is the increasing of congenital malformation in neonates. One of these drugs, lamotrigine [LTG], in addition to treatment of epilepsy, is used in many of the chronic neural diseases. There are a few controversial reports about teratogenic effect of this drug. Based on these reports, oral usage of this drug is not teratogenic. Therefore, the aim of this study was to investigate about the teratogenic effect of this drug on a number of mice fetuses following the interaperitoneal injections. In this study, 150 mice were divided in four groups: 1] control 1, no material administration, 2] control 2, ip ethanol solution was administrated, 3] case 1, LTG was administrated ip [25 mg/kg, tid] 4] fourth group [case 2], LTG was administrated ip 3 time/day [75 mg/kg] from the 9th to 18th day of gestation. Fetuses were collected on the GD 18 and then some of embryos were used for alizarin red and alcian blue staining. By this method of staining soft tissue would become clear, cartilages become blue, and bones turn to red. Then malformations in vertebral column, sternum and ribs were considered in four groups and were compared. In the group treated with LTG, different types of skeletal malformations were increased [p<0.001] and the incretion was drug dose-dependent. The results of this study showed that LTG is likely a risk factor in occurrence of skeletal malformation in mice fetus

Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis.

Spondylocostal dysostoses are a group of rare inherited disease with a heterogeneous disorder of vertebral segmentation defects and rib anomalies, which lead to respiratory problems predicting the clinical outcome. Spiral CT with three-dimensional (3D) imaging provides exact measurement of the bony rib cage. We report a case of an infant with spondylothoracic dysostosis, a phenotype of spondylocostal dysostoses, and 3D spiral CT findings of his rib cage since it may contribute to the surgical planning.

MURCS association.

The MURCS association i.e. MUllerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia is a rare developmental disorder. The authors report a case of MURCS association with supernumerary ribs in a 7-month-old infant who presented with failure to thrive.

Pulmonary hypoplasia in Jarcho-Levin syndrome

Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We report the autopsy findings in a newborn with isolated Jarcho-Levin syndrome emphasizing pulmonary pathology. He was a pre-term male who died of respiratory failure at three hours old and, autopsy findings confirmed the clinical diagnosis. Internal examination showed hypoplastic lungs with normal lobation. The histological structure appeared normal and relatively mature; the diaphragm showed eventration and unilateral absence of musculature. This case shows the worst spectum of the Jarcho-Levin syndrome: pulmonary hypoplasia not compatible with extrauterine life. Since thoracic restriction is present during the fetal period, the degree of pulmonary hypoplasia probably defines survival beyond the neonatal period.