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micrognathism/asthenia
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Hypotonia, weakness, and pontocerebellar hypoplasia in siblings.
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A 6-week-old girl presenting with severe weakness, hypotonia, gastroesophageal reflux, and microcephaly as well as dysmorphic features including micrognathia and high arched palate was also found to have pontocerebellar hypoplasia. She died of acute pneumonia at age 6 months. Her younger brother
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
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Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant family with cap
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
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Zmpste24 is a metalloproteinase required for the processing of prelamin A to lamin A, a structural component of the nuclear lamina. Zmpste24 deficiency results in the accumulation of prelamin A within cells, a complete loss of mature lamin A, and misshapen nuclear envelopes. Zmpste24-deficient
Arthrogryposis multiplex congenita: spectrum of pathologic changes.
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The pathologic features of muscle and/or spinal cord were studied in 96 infants and children with contractures of multiple joints (arthrogryposis multiplex congenita), usually in association with other congenital abnormalities. Ninety of these infants had a neurogenic form of arthrogryposis, and six
King-Denborough Syndrome: report of two Brazilian cases.
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We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae,
Brief clinical report and review: the Marden-Walker syndrome.
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We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions;
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).
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Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of
Mobius syndrome: a dental hygiene case study and review of the literature.
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Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications. Signs and symptoms of this condition include: congenital, bilateral or unilateral palsies of the facial and abducens cranial nerves (cardinal sign), and a broad scope
Oral implant rehabilitation in a patient with Moebius syndrome.
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BACKGROUND
Moebius syndrome is a rare congenital disorder characterized by unilateral or bilateral involvement of the sixth and seventh cranial nerves, resulting in a lack of facial expression and eye movements. These patients suffer a series of oral manifestations that may complicate their dental
[Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)].
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Pena-Shokeir syndrome is a rare lethal disorder which clinical phenotype is the result of a deformation sequence caused by fetal akinesia/hypokinesia. In approximately 50 % cases an autosomal recessive mode of inheritance were documented. Main clinical characteristics of Pena-Shokeir syndrome are:
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence.
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This article briefly reviews the participation of fetal compression, muscular weakness, and fetal akinesia in the genesis of the anomalies found in fetal akinesia deformation sequence (FADS) and oligohydramnios sequence (OS). Both sequences share phenotypic manifestations, such as arthrogryposis,
The transcervical incision for use in oral and maxillofacial surgical procedures.
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OBJECTIVE
The aim of this study was to evaluate the long-term outcome of the transcervical approach to treat various mandibular problems.
METHODS
Sixty-two patients (37 males and 25 females; age range, 15 to 80 years; mean age, 45.1 years) were treated via the transcervical approach. Twenty-eight
Anesthetic experience using total intra-venous anesthesia for a patient with Wolf-Hirschhorn syndrome -A case report-.
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We present here the case of a 33-month-old male patient with Wolf-Hirschhorn syndrome (WHS) and who underwent tympanoplasty and myringotomy. WHS is caused by a rare chromosomal abnormality, which is the deletion of the short arm of chromosome number 4. The typical craniofacial features of WHS
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
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OBJECTIVE
To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2.
METHODS
The authors performed clinical investigations and reviewed medical records. Muscle biopsy
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
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OBJECTIVE
To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.
METHODS
A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had
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