1/28. Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?We report a family in which four members of three generations are affected by median cleft palate. The proband and her mother have additional features including bilateral single transverse palmar creases, broad great toes and hypoplastic fifth toenails. Dominant isolated cleft palate has rarely been reported, and there are no previous reports of dominant cleft palate with these associated features. We believe that this represents a previously unreported syndrome, which needs to be considered when assessing recurrence risk for cleft palate.- - - - - - - - - - ranking = 1keywords = median (Clic here for more details about this article) |
2/28. 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 = 2.2701652268415keywords = nerve (Clic here for more details about this article) |
3/28. 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 = 0.45403304536831keywords = nerve (Clic here for more details about this article) |
4/28. 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 = 77.366740960416keywords = median nerve, median, nerve (Clic here for more details about this article) |
5/28. 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 = 1.3620991361049keywords = nerve (Clic here for more details about this article) |
6/28. Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.- - - - - - - - - - ranking = 1keywords = median (Clic here for more details about this article) |
7/28. Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.In 1954, Papillon-Leage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected. An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient.- - - - - - - - - - ranking = 1keywords = median (Clic here for more details about this article) |
8/28. 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 = 0.45403304536831keywords = nerve (Clic here for more details about this article) |
9/28. 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 = 0.45403304536831keywords = nerve (Clic here for more details about this article) |
10/28. Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.- - - - - - - - - - ranking = 1keywords = median (Clic here for more details about this article) |
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