1/104. Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/104. 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 = 2.5keywords = bone (Clic here for more details about this article) |
3/104. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
4/104. 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 = 0.5keywords = bone (Clic here for more details about this article) |
5/104. Prenatal sonographic diagnosis of Holt-Oram syndrome.Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
6/104. Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised by maximal involvement of the middle phalanges. We report an extended family with a mild brachydactyly A1 which was, except for some short stature, not associated with any of the additional clinical findings reported in several published families. While all the hand bones tended to be small, the principal features of the affected members were shortened middle and distal phalanges, proximal 1st phalanges, and 5th metacarpals. The feet were similarly involved and tended to have a broad, slightly adducted forefoot. The two affected children showed multiple coned epiphyses. This paper provides a detailed description of the family including the radiographic signs and metacarpophalangeal profiles, which proved to be useful in distinguishing the mildly affected persons.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
7/104. Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum.We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, agenesis of the corpus callosum. This feature has not been reported in either of these syndromes. It is possible that this baby has a previously undescribed syndrome.- - - - - - - - - - ranking = 2.5keywords = bone (Clic here for more details about this article) |
8/104. 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 = 238.29209253823keywords = metatarsal, bone (Clic here for more details about this article) |
9/104. 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 = 0.5keywords = bone (Clic here for more details about this article) |
10/104. Excessive growth in a girl with Weaver syndrome.A 24 month-old female with Weaver syndrome who has the most severe overgrowth among reported cases is presented. Prenatal history was remarkable for maternal hydantoin use throughout pregnancy. In addition to all major features of the syndrome, she displayed some novel features, including patent ductus arteriosus, atrial septal defect and diffuse thinning of the corpus callosum. Initially, carpal bone age was more advanced compared to phalangeal bone age, as expected in Weaver syndrome. However, phalangeal bone age caught up with carpal bone age during the follow-up period, suggesting that dysharmonic bone age advancement is an early feature of Weaver syndrome. The apparent male predominance in Weaver syndrome is generally ascribed to milder expression of the syndrome in females. The present patient, showing the most severe expression of the syndrome, refutes the notion that females with Weaver syndrome may have a milder form of the syndrome.- - - - - - - - - - ranking = 2.5keywords = bone (Clic here for more details about this article) |
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