Bilateral Aplasia Research Articles

Bilateral aplasia of parotid glands correlated with accessory parotid tissue

Congenital absence of major salivary glands, especially the parotid gland, is a rare entity. It is usually monolateral and is not correlated with accessory salivary gland tissue. Aplasia of parotid gland may occur alone or in association with abnormalities of other salivary glands, first branchial arch developmental disturbances or other congenital anomalies.We report an interesting case of bilateral aplasia of the parotid glands together with bilateral accessory parotid tissue, without other congenital or developmental anomalies, and we describe the clinical and radiological findings.

Disruption of the SLC26A3-mediated anion transport is associated with male subfertility

Male subfertility in congenital chloride diarrhea (CLD) was possible after identification of expression of an epithelial Cl-/HCO3- exchanger SLC26A3 in the male reproductive tract and by the observation that adult men with CLD had very few children. A prospective clinical and laboratory study among eight adult Finnish men with CLD revealed constant oligoasthenoteratozoospermia but normal spermatogenesis, high chloride and low pH in seminal plasma, and three spermatoceles, suggesting that male subfertility is a clinical manifestation of CLD and could be caused by an analogous defect in the epithelial Cl-/HCO3- and water transport, as described for the CLD intestine.

Bilateral aplasia of the vas deferens

Bilateral aplasia of the vas deferens

Combined sphenoid and frontal sinus aplasia accompanied by bilateral maxillary and ethmoid sinus hypoplasia

We describe CT scans of a case with bilateral aplasia of frontal and sphenoid sinuses with symmetrical hypoplasia of the ethmoid cellules and maxillary sinuses. This case appears to be first in the English-language literature with these combined findings.

Breakpoints around the HOXD cluster result in various limb malformations

Background: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements. Methods: We have identified and investigated three patients...

Cystic fibrosis – the most frequent life-shortening autosomal recessive disease

Cystic Fibrosis (CF) is one of the most frequent genetic diseases in the white populations of Europe and North America. Its clinical manifestations are highly variable, ranging from a characteristic life-shortening pathology of the lungs and the pancreas in classical CF to symptoms mainly restricted to male sterility in patients with congenital bilateral aplasia of the vasa deferentia (CBAVD). The genetic basis of CF is mutations in both copies of the CFTR gene, which codes for an ion channel. Even though one single mutation, deltaF508, is responsible for two-thirds of all mutated CFTR alleles, a total of over 1000 CFTR mutations have been described, whose relative frequencies vary between different ethnic groups, and whose biochemical consequences are correlated to the clinical manifestations of the disease. Since 4% of white Europeans and North Americans are healthy heterozygous carriers of CF, the molecular diagnosis of this disease, offered in the context of genetic counselling by a specialist in human genetics, is of great importance.

Aplasia of the parotid gland in Down syndrome

Salivary gland aplasia has not to our knowledge been previously reported in association with Down syndrome. We present a case of bilateral parotid aplasia in a patient with Down syndrome. Clinically he had aplasia of the major salivary glands and symptoms of xerostomia. Thirteen other family members over three generations were examined, and all had functional parotid glands. We reviewed publications about Down syndrome and salivary aplasia, together with the data regarding his other clinical problems and family background. His oral problems were inadequate plaque control, dental caries, and erosion of the teeth.

Congenital patellar aplasia in a family of cats

SummaryA diagnosis of congenital bilateral patellar aplasia was made in two male littermate Siamese cats that presented for abnormal conformation and hind limb gait. Both cats had abnormalities of the femora, tibiae, fibulae, and tali. The owners reported that the cats were able to ambulate adequately in the house and jump onto low-lying objects. Other than signs related to this developmental anomaly, significant abnormal clinical signs were not noted in either cat. According to the owner, none of the other littermates were affected, but the seven year old sire displayed identical clinical signs. Unfortunately, the sire and littermates were not available for examination. Treatment was not pursued for either cat.

Another adult with Meier-Gorlin syndrome - insights into the natural history

The Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder, characterized by bilateral microtia, aplasia or hypoplasia of the patellae, and severe intrauterine and post-natal growth retardation. We describe the phenotype and report the medical history of a 25-year-old woman with MGS. Her phenotypic evolution was characterized by severe growth retardation with decelerated growth of the head and subsequently a relatively small head, normal intelligence, alteration of the facial features to a more proportionate appearance, improvement of joint function and incomplete breast development. Other characteristics of her phenotype in adulthood include a cheerful personality, a high forehead and accentuated naso-labial folds, relatively very small ears, hypoplastic breasts, and normal menstruation.

Das Levy-Hollister-Syndrom: Ein Dysplasiesyndrom mit HNO-Manifestationen

The Levy-Hollister syndrome is characterized by a highly variable expression of dysplasia in different organ systems. Autosomal-dominant inheritance is recognised, but most cases are sporadic. In the field of otorhinolaryngology, xerostomia can be found due to aplasia of the major salivary glands, as well as congenital sensorineural, conductive or combined hearing loss and dysplasia of the auricles, mostly appearing as cup-shaped ears. Here we report on a 2-year-old boy with severe xerostomia. The disease was found to be caused by bilateral aplasia of the parotid and submandibular glands. There were also slight dysplasias of both auricles and a bilateral inner ear malformation as the origin of sensorineural hearing loss. Due to its highly variable expression, Levy-Hollister syndrome is often difficult to distinguish from other diseases and syndromes, so that the cooperation of different departments is necessary for an accurate diagnosis. Because of its dominant inheritance, a genetic consultation should be recommended to the patient. Auricular dysplasia and conductive hearing loss can possibly be treated surgically.

Osteological and Morphometric Observations on Intervertebral Joints in the Canine Pre-diaphragmatic Thoracic Spine (Th1–Th9)

The incidence of facet aplasia was investigated in three groups of pure-bred dogs. We examined large breeds (Rough Collies, Doberman Pinschers, Rottweilers, Bernese Mountain Dogs, German Shepherd Dogs), chondrodystrophic breeds (Dachshunds, Pekinese dogs), and small breeds (Yorkshire Terriers, Maltese dogs). Uni- or bilateral aplasia of zygapophyseal (facet) joints was exclusively found in juvenile and adult small dogs, in which the incidence of aplasia ranged from between 26% (Th1) and 63% (Th8). There was no evidence that aplasia of zygapophyseal joints increases the risk of developing intervertebral disc disease or deformative spondylosis in small breeds. By applying the findings of previous empirical studies on intervertebral disc geometry and its biomechanical behaviour on the present morphometric results, there was an indication that the intervertebral disc may well compensate for the functional loss of aplastic zygapophyseal joints in small dogs. Biomechanical factors and their potential role as inducing agents of facet aplasia in the pre-diaphragmatic thoracic spine are also discussed.

Multilevel Thoracic Pedicle Aplasia Causing Congenital Thoracic Kyphosis: Case Report

Congenital thoracic kyphosis is a rare cause of treatable myelopathy. Multilevel thoracic pedicle aplasia as a cause of this deformity has not been previously reported in the literature. We report a case and describe the surgical management and outcome. A 14-year-old boy presented to us with a 4-month history of back pain and slowly progressive spastic paraparesis. Radiographic studies revealed thoracic kyphosis and bilateral aplasia of the pedicles of T4-T8. The patient underwent surgical treatment via a posterior approach for decompression of T4-T8, followed by arthrodesis from T2 to T12, using a hook claw construct with multiple points of fixation and autologous bone grafting. Congenital vertebral anomalies may be clinically occult, and delayed presentation may occur in adolescence or adulthood. Aplasia of multiple thoracic pedicles can produce kyphotic deformities with neurological compromise. A posterior approach with multiple points of segmental instrumentation can be effective in treating kyphotic deformities that are flexible and of moderate severity (<75 degrees).

Brief communication: bilateral aplasia of the condyles in a 1,400-year-old mandible from Israel.

A rare pathological mandible, manifesting bilateral absence of the condyles, is discussed. The pathology was identified as hemifacial microsomia. The mandible, dated to the Byzantine period in Israel, manifests bilateral aplasia of the condyles and extreme shortness, but normal width, of the body. The extremely well-developed coronoid process, the grooved masseter insertion area, and the manifestation of a medial pterygoid tubercle (MPT) suggest hypertrophy of the occlusal muscles. The presence of a large MPT is considered a Neanderthal autapomorphy. Studying the biomechanic forces acting on the deformed mandible in hemifacial microsomia patients may shed light on the mastication process in Neanderthals.

Temporal bone CT findings in the CHARGE association

Ten out of 20 cases with the CHARGE association and two CHARGE-like cases underwent temporal bone CT scanning and/or MRI: they all showed bilateral aplasia of the semicircular canals and obliteration of the oval windows. Vestibular examination was performed in nine CHARGE cases and the two CHARGE-like cases, which disclosed vestibular areflexia in all of them. Of the 16 evaluable CHARGE cases, eight had bilateral mixed hearing impairment, while eight had sensorineural hearing impairment which was bilateral in six and unilateral in two cases. Temporal bone CT scanning is therefore indicated in suspected CHARGE cases, even if they show normal hearing or a relatively good bone conduction threshold in one or both ears.

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A).

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations

Congenital bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG, -33G→A). Hum Mutat 11:480, 1998. © 1998 Wiley-Liss, Inc.

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations

Congenital bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG, -33G→A). Hum Mutat 11:480, 1998. © 1998 Wiley-Liss, Inc.

Pierre Robin syndrome associated with bilateral femoral aplasia, shortening of upper extremities, right kidney agenesis and left kidney malformation

A 5-year-old female infant with a extremely rare combination of Pierre Robin syndrome and multiple malformations of the limbs and kidneys is presented. Orthopaedic, hearing, intellectual and speech disabilities and treatment difficulties are discussed.

Bilateral Aplasia of the Optic Nerves, Chiasm, and Tracts in an Otherwise Healthy Infant

To report bilateral aplasia of the optic nerves, chiasm, and tracts in an otherwise healthy infant. Case report. Ophthalmologic examination disclosed bilateral microphthalmos and optic nerve aplasia. Physical, neurologic, and genetic evaluations were otherwise normal. Magnetic resonance imaging of the brain and orbits disclosed bilateral aplasia of the optic nerves, chiasm, and tracts. Bilateral aplasia of the optic nerves, chiasm, and tracts may occur in an otherwise healthy infant.

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.

Some patients express various features of cystic fibrosis (CF) even though essential characteristics of the disease might be absent. Such patients may suffer from respiratory disease without pancreatic insufficiency and normal sweat chloride levels. Others may present as male infertility because of congenital bilateral aplasia of the vas deferens (CBAVD) with no other signs of CF. The 5T allele, a DNA variant in a noncoding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene that reduces the level of the normal CFTR transcripts, was found in increased frequency among male patients with CBAVD. The purpose of this study was to investigate the possibility that the 5T allele is associated with dysfunction of organs other than the male reproductive system, leading to CF or atypical CF. Analysis of the 5T allele was performed on 148 subjects (29 with CF, 61 with atypical CF, and 58 with CBAVD) carrying 232 chromosomes with unidentified CFTR mutations, and on 142 non-CF chromosomes from healthy subjects of Ashkenazi origin. The frequency of the 5T allele among chromosomes from patients of Jewish Ashkenazi origin with CF and atypical CF (six of 33; 18%) was significantly higher than the frequency in the normal Ashkenazi population (eight of 142; 6%; p = 0.03). Analysis of the clinical presentation of the five patients with CF and the 12 patients with atypical CF carrying the 5T allele indicated that most patients suffered from respiratory disease presenting as asthma like symptoms, nasal polyposis, chronic sinusitis, chronic bronchitis, or bronchiectasis. Six patients had pancreatic insufficiency, two with meconium ileus. Sweat Cl- levels ranged from normal to elevated. Of the six male patients with respiratory disease who were old enough to be evaluated for fertility status, five were fertile and one had pancreatic insufficiency. Among male patients with CBAVD, 41% suffered from respiratory symptoms. Thus, the 5T allele is a variant with partial penetrance causing disease with an extreme variability of clinical presentation: from normal healthy fertile subjects or male patients with CBAVD to those with atypical or typical clinical phenotype of CF.