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Am J Med Genet A ; 173(4): 938-945, 2017 Apr.
Article En | MEDLINE | ID: mdl-28328130

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.

Ear Diseases/diagnosis , Ear/abnormalities , Genetic Predisposition to Disease , Micrognathism/diagnosis , Mutation , Phospholipase C beta/genetics , Pierre Robin Syndrome/diagnosis , Adult , Child , Ear/pathology , Ear Diseases/classification , Ear Diseases/genetics , Ear Diseases/pathology , Endothelin-1/genetics , Female , GTP-Binding Protein alpha Subunits, Gi-Go/genetics , Gene Expression , Genes, Dominant , High-Throughput Nucleotide Sequencing , Humans , Male , Micrognathism/classification , Micrognathism/genetics , Micrognathism/pathology , Pedigree , Phenotype , Pierre Robin Syndrome/classification , Pierre Robin Syndrome/genetics , Pierre Robin Syndrome/pathology , Terminology as Topic
Am J Med Genet A ; 158A(4): 732-42, 2012 Apr.
Article En | MEDLINE | ID: mdl-22383261

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

Connective Tissue Diseases/genetics , Hyalinosis, Systemic/genetics , Hyalinosis, Systemic/pathology , Membrane Proteins/genetics , Child , Child, Preschool , Connective Tissue Diseases/pathology , Connective Tissue Diseases/surgery , Female , Fibromatosis, Gingival/genetics , Fibromatosis, Gingival/pathology , Gingival Hyperplasia/genetics , Gingival Hyperplasia/pathology , Humans , Hyalinosis, Systemic/surgery , Male , Receptors, Peptide , Young Adult
J Plast Reconstr Aesthet Surg ; 64(9): e237-40, 2011 Sep.
Article En | MEDLINE | ID: mdl-21741334

We describe an infant with severe aplasia cutis congenita of the scalp that was characterised by a full-thickness calvarial bone defect combined with the absence of dura mater complicated by sagittal sinus haemorrhage. The defect was successfully managed by closure with a local temporal flap combined with a periosteum patch to allow closure of the dura mater. Previously, conservative treatments failed to remedy unexpected, massive bleeding, which could potentially threaten a patient's life. We highlight the osteogenic potential of surgically manipulated dura mater in this patient who was managed early with a surgical approach.

Ectodermal Dysplasia/surgery , Osteogenesis , Periosteum/transplantation , Skull/growth & development , Skull/surgery , Surgical Flaps , Dura Mater/abnormalities , Hemorrhage/etiology , Hemorrhage/surgery , Humans , Infant , Male , Skull/abnormalities , Superior Sagittal Sinus
Plast Reconstr Surg ; 127(4): 1620-1630, 2011 Apr.
Article En | MEDLINE | ID: mdl-21460668

BACKGROUND: The aim of this study was to identify variables that affect orbital relapse after hypertelorbitism correction. METHODS: The authors retrospectively reviewed the medical records of patients who underwent hypertelorbitism correction at a single institution between 1975 and 2005. Bony interorbital distance was measured postoperatively and at long-term follow-up. Orbital relapse was defined as the difference between bony interorbital distance measurements at these time points. Patients were stratified into groups based on age at primary surgical correction (early, <8 years; late, ≥ 8 years), the severity of the initial deformity (moderate, bony interorbital distance ≤ 40 mm; severe, bony interorbital distance >40 mm), and the type of surgical technique used (facial bipartition versus box osteotomy). Differences in relapse between the stratified groups were analyzed using paired t tests. RESULTS: A total of 22 patients met inclusion criteria for this study. Patients who underwent surgery before 8 years of age had a significantly higher degree of orbital relapse compared with older patients (5.9 mm versus 1.8 mm; p = 0.0142). There was no significant difference in orbital relapse based on the severity of the deformity or the operative technique used. CONCLUSIONS: Surgical correction of hypertelorbitism in patients younger than 8 years leads to a significantly higher rate of bony interorbital distance relapse compared with patients who undergo surgery at an older age. Neither the initial degree of severity nor the type of surgical technique correlates with relapse. The authors therefore recommend that in the absence of urgent factors necessitating early intervention, hypertelorbitism correction should be performed after 8 years of age.

Hypertelorism/surgery , Orbit/surgery , Adolescent , Adult , Child , Face/surgery , Facial Bones/surgery , Female , Humans , Hypertelorism/pathology , Longitudinal Studies , Male , Middle Aged , Orbit/pathology , Osteotomy , Postoperative Complications , Reconstructive Surgical Procedures/methods , Recurrence , Young Adult