11/240. Vertebral anomalies in a new family with ODED syndrome.We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia. In addition, previously unreported vertebral anomalies are described. This report further delineates the clinical and radiographic spectrum of this syndrome, providing useful information for diagnosis and family counseling.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
12/240. Autosomal recessive multiple pterygium syndrome: a new variant?Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
13/240. An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.- - - - - - - - - - ranking = 42.448864385387keywords = deformity (Clic here for more details about this article) |
14/240. An autopsy case of Adams-Oliver syndrome.We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28( 6) weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd & 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd & 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in korea.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
15/240. A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6 (6q14). The deletion is contained within a de novo pericentric inversion with breakpoints in 6p11.2 and 6q15 (karyotype 46,XX, del(6)(q13q15),inv(6)(p11.2q15). The distal breakpoint of the deletion and the pericentric inversion at 6q15 are the same, but the proximal breakpoints differ. Since cells with other chromosomal findings were not detected in cultured lymphocytes and fibroblasts, chromosome mosaicism seems unlikely. Thus, it is assumed that the inversion and the deletion originated from the same event. The development of a distinctive phenotype in the patient was observed over a period of 22 years. It includes characteristic dysmorphic facial features such as ocular hypertelorism, flat nasal bridge, prominent zygomatic bones, and a depressed glabella. A striking, non-progressive deficit of motor control is manifest in an inability to use her hands properly and a broad-based slow-motion-like gait. Although severely deficient in abstract mental abilities and speech development, she is well adapted to family life and to a school for retarded individuals. Normal height and head circumference, and reduced sensitivity to pain are noteworthy. Presumably the deletion caused the phenotype and the distinct behavioral pattern. This patient probably represents a novel chromosomal phenotype that results from aggregate haploinsufficiency of gene loci in the deleted region.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
16/240. The inheritance of the Aarskog facial-digital-genital syndrome.Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
17/240. A new arthrogryposis syndrome with facial and limb anomalies.A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
18/240. First trimester diagnosis of split hand/foot by transvaginal ultrasound.OBJECTIVE/METHOD: First trimester high-frequency transvaginal ultrasonographic examination was performed in a 26-year-old gravida 2, para 1, diagnosed with tetramelic split hands and feet. The couple was informed about the probable 50% recurrence risk of this anomaly. RESULTS: At 12 weeks' gestation, high-frequency transvaginal ultrasound examination revealed a fetus with biometry consistent with gestational age. Both hands appeared to have a single digit at the ulnar side. On the site of the metacarpal bones, only three bones could be visualized. Both feet showed two digits, with a typical 'split-foot' appearance. Nuchal translucency thickness measured 1.0 mm. No additional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM). CONCLUSION: This case report demonstrates prenatal sonographic diagnosis of SHFM in a first trimester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents. Secondly it provides the option of early surgical termination of the pregnancy instead of induction of labour.- - - - - - - - - - ranking = 7keywords = hand (Clic here for more details about this article) |
19/240. Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance.- - - - - - - - - - ranking = 5keywords = hand (Clic here for more details about this article) |
20/240. Deletion of 2q37 and duplication of 10q24: two cases in the same family and review of the literature.We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
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