1/22. An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. review of the literature and relevant databases does not identify a likely diagnosis.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/22. epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainstem atrophy, and epilepsy. These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appearance of Kabuki make-up syndrome and partial epilepsy who demonstrated polymicrogyria on neuroimaging. This article is the first report of a gyration disorder in Kabuki make-up syndrome. The relationship between epilepsy and polymicrogyria in this patient is discussed.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
3/22. A case of mirror hand deformity with a 17-year postoperative follow up. Case report.We present a case of a boy with a congenital upper-extremity malformation, including aplasia of the radius, double ulna, aplasia of the thumb, and polydactyly with a 17-year postoperative follow-up. The whole extremity, particularly the upper arm and shoulder girdle were hypoplastic. There was restriction of movement of the elbow and a flexion contracture of the wrist. At an age of 2 years he had three hypoplastic fingers resected and pollicisation of the third accessory finger. The thenar was reconstructed by interosseous muscle transfers and the flexion contracture corrected by a flexor tendon transfer. Preoperative electromyographic studies showed that he had two ulnar nerves with cross-innervation of the median nerve. Further improvements (including tendon transfer of the flexor carpi radialis) were made 16 years after the primary operation. At the age of 18 years the patient has satisfactory function of his left hand.- - - - - - - - - - ranking = 0.4keywords = nerve (Clic here for more details about this article) |
4/22. Ulnar neuropathy at the elbow due to unusual sleep position.Abnormal strain of the ulnar nerve over the sulcus due to an unusual sleep position is a rare cause of ulnar neuropathy at the elbow. A 57-year-old patient with Mandelung's deformity developed progressive weakness in the flexion of fingers 4 and 5 and in finger straddling on the left side. Additionally, there was slight wasting of the left hypothenar and the left interossei muscles. Motor and sensory nerve conduction studies of the left ulnar nerve showed delayed conduction velocities over the left ulnar sulcus. He preferred to sleep in a left lateral position with his head lying on a headrest roll, his left forearm being flexed at 110 degrees and his hand lying either under his cheek or placed on the roll. Only three weeks after the patient had been advised to change his sleep position and to sleep without the headrest roll, weakness markedly improved. This case shows that sleeping in a lateral position with the head on a headrest roll and the hand placed on the roll or under the cheek may cause ulnar neuropathy at the elbow. Change of such a habitual sleep position promptly resolves the symptoms.- - - - - - - - - - ranking = 0.6keywords = nerve (Clic here for more details about this article) |
5/22. Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from oman.We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
6/22. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss-of-function mutations of MGP result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth MGP mutation (IVS2 1G > A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2-intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid-dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 1G > A mutation is consistent with the previously reported loss-of-function mutations of MGP.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
7/22. Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with poland syndrome reported in combination with Moebius syndrome, presenting with contralateral hand and ipsilateral foot anomalies.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
8/22. Long-term complications of iris-claw phakic intraocular lens implantation in weill-marchesani syndrome.PURPOSE: This study was designed to report the long-term complications of iris-claw phakic intraocular lens implantation in a patient with weill-marchesani syndrome. methods: Case report and literature review. RESULTS: A 26-year-old man with a history of glaucoma had bilateral phakic lens implantation for high myopia 10 years previously. Two years later, the left implant dislocated and was repositioned. Slit-lamp examination of both eyes revealed phakic implants of the iris-claw variety. There were moderate iridocorneal adhesions in the areas in which the lens haptics pinched the iris in both eyes and moderate epithelial and stromal edema over the temporal one-third of the left cornea. The crystalline lenses were clear with 3 phacodonesis OU. Dilated fundus examinations revealed bilateral severe optic nerve cupping. Crystalline lens diameters were measured at 7.5mm in the right eye and 8 mm in the left. anterior chamber depths were 2.63 mm OD and 2.40 mm OS. Specular microscopy revealed central endothelial cell counts of 1133 and 587 cells/mm OD and OS, respectively. Axial lengths were 23.3 mm OD and 25 mm OS. Gonioscopic examination revealed bilateral angle closure with marked peripheral anterior synechiae. Based on our findings of short stature, shortened and thickened fingers, relatively normal axial length, microspherophakia, high myopia, and glaucoma, we diagnosed the patient with weill-marchesani syndrome. CONCLUSION: iris claw-lens phakic lenses may be an effective surgical alternative to correct high myopia in select patients; however, it may produce long-term complications in eyes with specific features.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
9/22. Moebius syndrome with central hypoventilation and brainstem calcification: a case report.Moebius syndrome (MS) is described in an infant with central hypoventilation and brainstem calcification. The patient had limb defects and bilateral paralysis of the 6th, 7th, 9th, 10th, and 12th cranial nerves. Mechanical ventilation was continued from birth because of shallow spontaneous respiration. Computed tomography revealed brainstem atrophy and four small calcifications restricted to the dorsal portion of the pons and medulla. Prenatal brainstem injury such as ischaemia may have caused MS and central hypoventilation.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
10/22. Anatomical analysis of the developmental effects of aneuploidy in man--the 18-trisomy syndrome: II. Anomalies of the upper and lower limbs.We report the anatomical variations of the limbs in eight infants with the trisomy-18 syndrome that were dissected and studied in detail. In each case, the upper limbs showed defects which further define the specific influence of this aneuploidy on the development of its preaxial (radial) component, and the tendency towards reduction defects. Abnormalities included muscle variations concentrated along the radial margin of the forearm and hand, the absence of the definitive musculocutaneous nerve in all of the limbs, and reductions of the radial artery in four of the bodies. Pathogenetic mechanisms explaining the observed defects are discussed, and include: 1) a defect in peripheral nerve development; or 2) tissue necrosis. The characteristic flexion deformities of the fingers seem to be due to a displacement of the tendons of extensors digitorum and digiti minimi. The lower limbs did not show a consistent pattern of defects, except for the absence of some muscles (psoas minor, the tendon of flexor digitorum brevis to digit V), and the presence of several supernumerary muscles. These variations are discussed as possible nonspecific effects of 18-trisomy on development. The additional anatomical data from this and the first paper in this series [Bersu and Ramirez-Castro, 1977] provide a more detailed picture of the trisomy-18 phenotype which may be useful in corroborating an unconfirmed clinical diagnosis of the syndrome.- - - - - - - - - - ranking = 0.4keywords = nerve (Clic here for more details about this article) |
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