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Biomedical subjects

Edmond G Lemire

Publications and source records attributed to Edmond G Lemire.

11 recordsLinked to original sources
PubMed2006

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor.

Child↗
PubMed2006

Epidural labour analgesia in a parturient with Noonan syndrome: a case report.

PURPOSE: Noonan syndrome is a relatively uncommon genetic disorder with implications for anesthesia due to multiple organ system involvement. Pregnancy presents additional concerns and there are only four reported cases of anesthesia for Cesarean delivery in parturients with Noonan syndrome. We describe the first reported management of labour analgesia in a parturient with Noonan syndrome culminating in vaginal delivery. CLINICAL FEATURES: A 21-yr-old parturient with Noonan syndrome received patient-controlled epidural analgesia for labour at 39 weeks gestation. Meticulous attention to the anesthetic technique resulted in good analgesia, and a successful outcome for mother and child. The different approaches to labour analgesia in parturients, with particular attention to combined spinal epidural vs epidural analgesia in this setting are discussed. CONCLUSION: Parturients with Noonan syndrome can present with an array of anomalies that may present difficulties to the anesthesiologist including a difficult airway, cardiopulmonary abnormalities, exaggerated lumbar lordosis and short stature. Careful preoperative consultation and determination of the degree of associated anomalies will help to prepare the anesthesiologist for potential problems.

Adult↗
PubMed2006

Omphalocele in an infant with Cornelia de Lange syndrome.

Cornelia de Lange syndrome is a genetic condition characterized by a very distinctive facial appearance, hirsutism, limb anomalies, growth retardation and developmental delay. Most cases occur sporadically as the result of a new autosomal dominant mutation, but there are also reports of parent to child transmission. Associated clinical features that are less frequent are quite well known in this very well described genetic syndrome. Omphalocele does not appear to ever have been reported to be an associated feature. We report, for the first time, an omphalocele in a molecularly confirmed case of Cornelia de Lange syndrome.

Cell Cycle Proteins↗
PubMed2005

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. We performed molecular characterization in clinically affected probands of 31 HHT families and detected a total of 28 different mutations in the two genes, including four shared by more than one family. Twelve mutations were identified in the ENG gene, six of which were novel and comprised two nonsense mutations in exons 6 and 8, deletions in exons 5 and 11, and splice site mutations in exon 12 and intron 8. Eleven of sixteen mutations identified in the ALK1 gene were novel single base pair substitutions in exons 4, 7, 8, and 9. We also describe the first de novo ALK1 mutation that causes a previously unreported c.1133C>A substitution of a highly conserved residue (p.P378H). The proband and his two daughters, who also carried the familial mutation, all suffered from gastrointestinal (GI) bleeding. In addition, we report seven newly identified polymorphisms and summarize all known ones in both genes.

Activin Receptors, Type II↗
PubMed2004

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis.

Nonspecific interstitial pneumonia, a recently described form of idiopathic interstitial pneumonia, is characterized by uniform involvement of the alveolar septae with interstitial inflammation and variable amounts of fibrosis. Histological observations differentiate nonspecific interstitial pneumonia from usual interstitial pneumonia and clinically, patients with a nonspecific interstitial pneumonia pattern show better prognosis than those with usual interstitial pneumonia. We have genetically analyzed a family with a history of usual interstitial pneumonia. Most of the patients presented as adults and their biopsies showed a pattern consistent with usual interstitial pneumonia. However, three family members presented in early childhood and their biopsies revealed a nonspecific interstitial pneumonia pattern. The inheritance pattern of usual interstitial pneumonia is consistent with autosomal dominant inheritance with variable expression. DNA sequence analyses of the surfactant protein C gene in children with nonspecific interstitial pneumonia and adults with usual interstitial pneumonia exhibit a common heterozygous mutation located in exon 5. The mutation causes a Leu188 to Gln188 change in the carboxy-terminal region of prosurfactant protein C, possibly affecting peptide processing. These observations suggest that individuals with this particular mutation in surfactant protein C gene might be at increased risk of interstitial lung disease of variety of types.

Adolescent↗
PubMed2004

Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?

We report a 21-year-old woman who has moderate to severe pulmonary hypertension, short stature, dysmorphic appearance, lipodystrophy and sclerodactyly-like involvement of her extremities. Cognitive development is in the low-average range. Various diagnoses have been suggested over the years, but none seem to fit her clinical presentation exactly. We suggest that she may have a previously undescribed connective tissue disorder with primary pulmonary involvement.

Adolescent↗
PubMed2002

Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies.

This is a report on a father and his two children with an apparent autosomal dominant condition characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart abnormalities with normal psychomotor development. Some clinical features are reminiscent of Noonan syndrome. Alternatively, this family may have a previously undescribed genetic condition. The family history is suggestive of a new autosomal dominant mutation in the father.

Abnormalities, Multiple↗
PubMed2002

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

Abnormalities, Multiple↗