1/77. The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/77. brachydactyly type B: case report and further evidence for clinical heterogeneity.We present a male child with digital and radiographic findings consistent with brachydactyly type B. His left hand had 2-4 syndactyly, shortened first and fifth digits and single palmar and fifth finger flexion creases. The nail on the second finger was hypoplastic. The right hand had a small thumb and curving of the second finger towards the midline. The left foot had a short left hallux with an absent nail, 2-4 syndactyly and an absent toe. His right foot had a short, dorsiflexed hallux with a hypoplastic nail, 2-3 syndactyly and an overlapping toe. Radiographs showed asymmetrical hypoplasia of the middle and terminal phalanges and there were no extra-articular findings to suggest Sorsby syndrome. brachydactyly type B has classically been described as hypoplasia or absence of the terminal phalanges with absent nails. Although other digital anomalies have previously been described with brachydactyly type B, the absent digit, atypical syndactyly and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly. We provide a brief review of syndromes in which similar digital malformations have been reported.- - - - - - - - - - ranking = 0.00087029323813334keywords = classic (Clic here for more details about this article) |
3/77. 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 = 1keywords = deficiency (Clic here for more details about this article) |
4/77. Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
5/77. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia. We describe two unrelated girls with typical clinical, radiographic, and histological features of POH who also have findings of another uncommon heritable disorder, Albright hereditary osteodystrophy (AHO). One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). Levels of the alpha-subunit of the G protein (Gsalpha) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic dna from the mildly affected patient. Features of POH and AHO in two individuals suggest that these conditions share a similar molecular basis and pathogenesis and that isolated severe extraskeletal ossification may be another manifestation of Gsalpha deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/77. Reconstruction of an ulnar-sided thumb in central deficiency: a case report.The thumb, which is normally located on the radial border of the hand, requires adequate sensibility to perceive its environment and adequate mobility to oppose to the other digits. We present a case in which the most ulnar digit of the hand was surgically augmented to function as a thumb.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
7/77. Popliteal pterygium associated with neonatal marfan syndrome: case report.This report describes the case of a male infant with neonatal marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.- - - - - - - - - - ranking = 0.00087029323813334keywords = classic (Clic here for more details about this article) |
8/77. Proximal focal femoral deficiency, contralateral hip dysplasia in association with contralateral ulnar hypoplasia and clefthand: a case report and review of literatures of PFFD and/or FFU.A 14 year old boy with proximal focal femoral deficiency (PFFD) on left side, contralateral hip dysplasia in association with ulnar hypoplasia and cleft hand was seen our clinic one year ago. From our research, despite it is atypical presentation, this case in a broad context conforms with the femoral-fibula-ulna complex (FFU). This boy was born to healthy and nonconsanguineous parents. pregnancy and delivery were uncomplicated, and no history of prenatal teratogen exposure, any drug ingestion, infection, diabetes mellitus or other conditions that could be associated with malformation. The patient refused any sort of surgical treatment.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
9/77. D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-coa dehydrogenase, D-bifunctional protein. The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
10/77. Split-hand/split-foot malformation with paternal mutation in the p63 gene.We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I-II; cleft II-III; left cutaneous syndactyly III-IV). mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A-->G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A-->G (predicting amino acid substitution K194E) in a family with SHSFM.- - - - - - - - - - ranking = 0.0018565320863683keywords = acid (Clic here for more details about this article) |
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