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Ultrasound in Obstetrics & Gynecology :... Apr 1995Deformations of the extremities with limb reduction are rare congenital defects which affect one in 1692 live babies. Three-dimensional ultrasound can be of value in the...
Deformations of the extremities with limb reduction are rare congenital defects which affect one in 1692 live babies. Three-dimensional ultrasound can be of value in the prenatal diagnosis of such deformities. We present a case of upper phocomelia and congenital thrombocytopenia (TAR syndrome). Visualization of the upper extremities was achieved by three-dimensional ultrasound after surface and volume rendering. This new technique allows imaging not only of surfaces like the fetal skin, but also of internal structures like the fetal skeleton.
Topics: Adult; Arm; Ectromelia; Female; Humans; Image Processing, Computer-Assisted; Infant, Newborn; Pregnancy; Syndrome; Thrombocytopenia; Ultrasonography, Prenatal
PubMed: 7600204
DOI: 10.1046/j.1469-0705.1995.05040238.x -
Human Genetics May 1990Two daughters of non-consanguineous normal parents had phocomelia of both lower extremities with 4-toed feet. The older sister also had phocomelia of the left upper...
Two daughters of non-consanguineous normal parents had phocomelia of both lower extremities with 4-toed feet. The older sister also had phocomelia of the left upper extremity with 5 finger rays; she died immediately after birth. Autopsy disclosed a congenital diaphragmatic hernia, common mesentery and agenesis of the gallbladder, and normal female genitalia. In addition, the younger sister showed a bony skull defect, diastasis recti, agenesis of the uterus and agenesis or atresia of the vagina, hypoplasia of the sacrum and hypo/dysplasia of the pelvic bones. Her growth and mental development were normal. The patterns of anomalies of the two sisters do not fit into any of the syndromes featuring phocomelia; there was no prenatal exposure to thalidomide or any other possible teratogen.
Topics: Abnormalities, Multiple; Adolescent; Child; Ectromelia; Female; Gallbladder; Humans; Infant, Newborn; Skull
PubMed: 2338339
DOI: 10.1007/BF00210806 -
Indian Pediatrics Apr 2003We report three cases with congenital longitudinal deficiency of fibula. Two cases were of Type IB and one was Type II.
We report three cases with congenital longitudinal deficiency of fibula. Two cases were of Type IB and one was Type II.
Topics: Ectromelia; Female; Fibula; Humans; India; Infant; Infant, Newborn; Male; Radiography
PubMed: 12736412
DOI: No ID Found -
Journal of Ultrasound in Medicine :... Nov 2005
Topics: Child, Preschool; Ectromelia; Female; Follow-Up Studies; Humans; Infant, Newborn; Survivors
PubMed: 16239660
DOI: 10.7863/jum.2005.24.11.1555 -
Zentralblatt Fur Gynakologie Dec 1959
Topics: Congenital Abnormalities; Ectromelia; Humans
PubMed: 13843473
DOI: No ID Found -
American Journal of Surgery Mar 1965
Topics: Amputation Stumps; Arm; Artificial Limbs; Child; Ectromelia; Humans; Prostheses and Implants; Plastic Surgery Procedures; Surgical Procedures, Operative
PubMed: 14260818
DOI: 10.1016/s0002-9610(65)80077-0 -
Archives of Toxicology 1996Phocomelia (absence of upper fore and/or hind limbs) was induced in mouse fetuses using cyclophosphamide. On day 11 of gestation, pregnant mice were injected...
Phocomelia (absence of upper fore and/or hind limbs) was induced in mouse fetuses using cyclophosphamide. On day 11 of gestation, pregnant mice were injected intraperitoneally with 10 ml/kg of saline containing cyclophosphamide (CP) at a dosage of 20 mg/kg body weight. On day 18, the fetuses were removed by Caesarean section from dams given CP on day 11 and were examined for external anomalies. Of 22 fetuses from CP-treated dams, 13 were dead or absorbed, but the surviving 9 fetuses were found to have phocomelia with various other external anomalies. In order to examine the direct cytotoxic effect of CP on fetal limb buds, fetuses were removed at 8, 16, 24, and 48 h after CP administration on day 11, revealing the presence of frequent pyknotic nuclei and apoptotic bodies in hematoxylin and eosin (H & E) preparations. Cell-nuclei and apoptotic bodies were frequently observed by nick end-labeling in limb buds. Transmission electron microscopy demonstrated the typical changes of apoptosis. DNA extracted from the fetal limb buds submitted to CP was analysed by agarose gel electrophoresis, showing the ladder pattern characteristic of internucleosomal cleavage. These findings suggest that cyclophosphamide causes apoptosis in mouse fetal limb buds and that this process induces the external anomalies of phocomelia.
Topics: Animals; Apoptosis; Cyclophosphamide; DNA Nucleotidylexotransferase; Ectromelia; Embryonic and Fetal Development; Female; In Situ Hybridization; Male; Mice; Mice, Inbred BALB C
PubMed: 8870961
DOI: 10.1007/s002040050327 -
Nature Jul 2009Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper portion of the limb being most severely...
Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper portion of the limb being most severely affected. In extreme cases, the hands or fingers are attached directly to the shoulder and the most proximal elements (those closest to the shoulder) are entirely missing. This disorder, previously known in both autosomal recessive and sporadic forms, showed a marked increase in incidence in the early 1960s due to the tragic toxicological effects of the drug thalidomide, which had been prescribed as a mild sedative. This human birth defect is mimicked in developing chick limb buds exposed to X-irradiation. Both X-irradiation and thalidomide-induced phocomelia have been interpreted as patterning defects in the context of the progress zone model, which states that a cell's proximodistal identity is determined by the length of time spent in a distal limb region termed the 'progress zone'. Indeed, studies of X-irradiation-induced phocomelia have served as one of the two major experimental lines of evidence supporting the validity of the progress zone model. Here, using a combination of molecular analysis and lineage tracing in chick, we show that X-irradiation-induced phocomelia is fundamentally not a patterning defect, but rather results from a time-dependent loss of skeletal progenitors. Because skeletal condensation proceeds from the shoulder to fingers (in a proximal to distal direction), the proximal elements are differentially affected in limb buds exposed to radiation at early stages. This conclusion changes the framework for considering the effect of thalidomide and other forms of phocomelia, suggesting the possibility that the aetiology lies not in a defect in the patterning process, but rather in progenitor cell survival and differentiation. Moreover, molecular evidence that proximodistal patterning is unaffected after X-irradiation does not support the predictions of the progress zone model.
Topics: Animals; Body Patterning; Bone and Bones; Cell Death; Cell Differentiation; Cell Lineage; Cell Proliferation; Chick Embryo; Chondrogenesis; Ectromelia; Gene Expression Regulation, Developmental; Limb Buds; Reproducibility of Results; Stem Cells; Thalidomide; Time Factors; X-Rays
PubMed: 19553938
DOI: 10.1038/nature08117 -
La Pediatria Medica E Chirurgica :... 1986Roberts syndrome and SC phocomelia syndrome represent two malformative syndromes that, considering the presence of many common characteristics, are actually treated as...
Roberts syndrome and SC phocomelia syndrome represent two malformative syndromes that, considering the presence of many common characteristics, are actually treated as one pathological entity. These syndromes have a chromosomal abnormality in common resulting from an premature centromere splitting in prometaphase. A review of salient features and a case diagnosed in the neonatal period is reported.
Topics: Bone and Bones; Ectromelia; Female; Humans; Infant, Newborn; Karyotyping; Phenotype; Radiography; Syndrome
PubMed: 3725603
DOI: No ID Found -
European Journal of Pediatrics Jan 1990We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post traumatic epilepsy. Defects included the typical...
We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post traumatic epilepsy. Defects included the typical dysmorphism of the "fetal valproic syndrome", bilateral radial ray aplasia, unilateral proximal phocomelia of the upper limb, kidney hypoplasia and brain atrophy. A direct teratogenic effect of valproic acid is suspected on an experimental basis, and validated by two previous reports of radial defects after valproic acid exposure.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Bone and Bones; Ectromelia; Female; Humans; Infant, Newborn; Male; Pregnancy; Radius; Valproic Acid
PubMed: 2105893
DOI: 10.1007/BF02106290