21/67. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? The authors report a case of lethal neonatal dwarfism characterized by striking micromelia, fused rudimentary and supernumerary digits, large, soft head, pronounced hypertelorism, protruding eyes set laterally, enormous omphalocele and severe deficiency of tubular bone and spine ossification. Histologic examination showed lack of ossification of the cartilaginous anlage of many tubular bones. The cartilage had irregularly distributed chondrocytes. The matrix contained hypocellular and degenerated areas with scattered large chondrocytes. In a few bones a very disorganized growth cartilage was present. The case is similar to that described by Piepkorn et al. (1977) and may represent a severe form of "boomerang dysplasia" (Kozlowski et al., 1981; Tenconi et al., 1983; Kozlowski et al., 1985; Winship et al., 1990). ( info) |
22/67. Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report. thanatophoric dysplasia (TD) is the most frequent form of lethal osteochondrodysplasias. prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD may not be clearly distinguished from the other osteochondrodysplasias, with consequent important prognostic implications. However, in order to confirm the diagnosis, complementary radiological, pathological and molecular studies are mandatory. We present a case of TD diagnosed in the late first trimester with the contribution of nuchal translucency combined with ductus venosus blood flow assessment. ( info) |
23/67. Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK. ( info) |
24/67. Dichorionic twins discordant for thanatophoric dysplasia managed with selective reduction at 20 weeks' gestation: a case report. BACKGROUND: thanatophoric dysplasia (TD) is a rare and lethal form of skeletal disorder. A medline search for 1965-2003 yielded only 3 reports of multiple pregnancies discordant for TD. This is the first case report of selective twin reduction for this diagnosis. CASE: A young woman was seen in consultation at 20 weeks' gestation. Ultrasound examination revealed a twin pregnancy, with ultrasound markers consistent with thanatophoric dysplasia, type II, in twin A. A thick dividing membrane and separated placentas were noted. After counseling, the patient opted for selective termination of twin A. Termination was performed by intracardiac injection of potassium chloride. The pregnancy continued uneventfully until 33 weeks, when spontaneous labor resulted in vaginal delivery of a vigorous female infant, and a mummified, macerated fetus. CONCLUSION: Selective termination for discordant lethal anomalies can be safely performed when the presence of the anomalous twin increases the risk of a poor perinatal outcome for the apparently normal cotwin. ( info) |
25/67. Prenatal sonographic diagnosis of thanatophoric dwarfism. A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally. ( info) |
26/67. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. The campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity in patients with campomelia. cytogenetic analysis in the past have revealed an unexpectedly high incidence of a 46, XY karyotype in phenotypic females. We report here on a patient with a typical case of campomelic dysplasia in whom a de novo paracentric inversion of chromosome 17q was identified. review of the genetic map of the inverted region identified potential "structural" genes including the Hox-2-homeobox gene and the collagen gene, COLIA1, which may be involved in the pathogenesis of campomelic syndrome. ( info) |
27/67. Atelosteogenesis I and boomerang dysplasia: a question of nosology. We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias. ( info) |
28/67. holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (smith-lemli-opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely. ( info) |
| Bony abnormalities caused by thanatophoric dysplasia affect the base of the skull and the vertebrae as well as the ribs and appendicular long bones. We present our findings in a full-term infant with thanatophoric dysplasia in whom the posterior fossa, the rostral vertebral column, and the neuraxis at and adjoining the craniovertebral junction were studied by dissection, roentgenography, and histologic examination. In this infant, malformations of the vertebral laminae, most prominent in the basiocciput and atlas vertebra, led to compression of the rostral cervical spinal cord, causing gliosis and focal necrosis. Stenosis of the foramen magnum and spinal canal may contribute to the ventilatory insufficiency that often causes death in patients with thanatophoric dysplasia. We suggest that the causes of death in patients with thanatophoric dysplasia and other severe forms of osteochondrodysplasia should be sought in neuraxial injury rather than attributed solely to pulmonary hypoplasia. ( info) |
30/67. Thanatophoric dwarfism; drugs and antenatal diagnosis; a case report. Thanatophoric dwarfism is not as rare as once thought. We present this case because of the possible association with drug administration and the probability of diagnosing this condition antenatally. ( info) |