Diagnóstico ecográfico prenatal de focomelia de los miembros superiores / Prenatal echographic diagnosis of phocomelia in the upper limbs

Se describe el caso clínico de una paciente de 28 años de edad, que a las 23,4 semanas de gravidez fue ingresada en el Hospital Ginecoobstétrico Docente Tamara Bunke Bider de Santiago de Cuba con el objetivo de interrumpir el embarazo, por sugerencia de los especialistas del Centro Provincial de Genética Médica, quienes habían detectado una malformación fetal (focomelia de los miembros superiores) en la ecografía del segundo trimestre. A la gestante se le realizó una histerotomía; al ser extraído el feto, se confirmó el diagnóstico ecográfico.

The case report of a 28 years patient is described, she was admitted to Tamara Bunke Bider Teaching Gynaecoobstetric Hospital in Santiago de Cuba at the 23.4 weeks of pregnancy with the objective of interrupting pregnancy, due to the specialists of the Provincial Center of Medical Genetics suggestion who had detected a fetal malformation (phocomelia of the upper limbs) in the echography of the second trimester. When the fetus was removed, a hysterectomy was carried out and the echographic diagnosis was confirmed.

An interesting case of Phocomelia

Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16-18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non-hereditary limb deficiency involving all four limb buds.  Second opinion obtained from a fetal medicine consultant who confirmed the diagnosis. Hence, decided for mid trimester termination and fetus was expelled after 8 hours. Fetus was not sent for pathological analysis. Tetra-phocomelia is a rare congenital anomaly and it may be associated with other deformity also. 1st case of phocomelia was described after the intake of thalidomide. In this condition hands and feet are seen as small flippers of a seal. The differential diagnosis includes sporadic phocomelia, Holt-Oram syndrome, thrombocytopenia-absent radius syndrome (TAR syndrome), Robert’s syndrome, and thalidomide-induced phocomelia. Here authors are presenting a rare case of Phocomelia where there is no history of drug intake or family history. This has to differentiate from thrombocytopenia-absent radius syndrome (TAR syndrome), sporadic phocomelia, Holt-Oram syndrome, Robert’s syndrome, and thalidomide-induced phocomelia.

Study of Various Types Congenital Anomalies of Hand.

The present study is aimed at studying the various types, patterns and their percentages of incidences of anomalies of hand and associated with any other anomalies in district of Bangalore. A four years study was done in Bangalore district Bangalore. from 2007—2011. This fours years study was done on 1257 males 743 females of human hands for the presence of any anomalies .Out of them, only forty subjects had anomalies of hand ranging from new born to adult age group. Each case, a detailed history of family, personal history past history of drug intake in first trimester associated with any other anomalies were taken..Later relevant investigations were done for those subjects who had anomalies of hand.Then were ,grouped and photographed The subjects were classified into 5 groups as follows:Group-1,-Those subjects who had extra digits not involving the thumb(37.5%)--Post axial type polydactyly. Group-2,Those subject who had involvement of thumb(30.00%)…Preaxial type polydactyly.Group-3,Those subjects who had fusion of digits(27.5%),….Syndactyly. Group-4,Those subjects massive enlargement of thumb only(2.5%)…Macrodactyly .Group-5,Those subjects who had absence of fingers associated without shortening of limb .Most of the anomalies can be corrected surgically except those in cases of macrodactyly and absence of fingers Hence this study gives us knowledge of various types of anomalies hand not only to the Anatomists but also to plastic surgeons and to orthopedicians Hence it has been studied and reported.

Talidomida, contextos históricos y éticos / Thalidomide, historical and ethical contexts

A finales de la década del 50, en Europa, Australia, Japón y varios países africanos, la talidomida provocó más de 10 000 casos de defectos congénitos en hijos de madres que la consumieron durante el embarazo. En 1962, es retirada del mercado. Tres décadas después, se reivindica su prescripción en el manejo de enfermedades de pronóstico desfavorable. Sus propiedades antiangiogénicas e inmunorreguladoras la hacen diferente al fármaco de los años 50 en gran medida. A pesar de poseer las mismas propiedades farmacológicas y riesgos teratogénicos, la molécula talidomida tiene otras las indicaciones, dosis, campos de aplicación y condiciones legales de uso. Esta revisión tiene como objetivo reseñar los contextos históricos y éticos que condicionaron la proscripción de la talidomida a principios de los años 60, así como las actuales condiciones clínicas en que se usan o ensayan actualmente sus efectos terapéuticos.

In Europe, Australia, Japan, and some African countries in the late 50's, Thalidomide caused more than 10 000 cases of congenital defects in children whose mothers consumed it during pregnancy. In 1962, it was withdrawn from market. Thirty years later, it is used for the management diseases with unfavorable prognosis. Its antiangiogenic and immunoregulatory characteristics distinguish it from the drug of 1950. Although containing the same pharmacological features and teratogenic risks, the molecule thalidomide does have other prescriptions, doses, application fields, and lawful conditions of use. This revision points out both the historical and ethical contexts, which conditioned the banning of Thalidomide in the early 60's, and the clinical conditions in which its therapeutic effects are used and studied today.

Phocomelia: The Clinical Manifestation, Classification and Surgical Treatment of Korean Patients with Phocomelia / 대한정형외과학회잡지

PURPOSE: Phocomelia is an extremely rare congenital anomaly of the upper extremity. There have been no clinical reports about phocomlia in Korea except for five birth reports. We present here the clinical features, classifications and surgical treatments of our phocomelia cases. MATERIALS AND METHODS: From January 1993 to August 2007, seven patients were diagnosed as having phocomelia in 9 upper extremities at our clinic. Surgical treatments were performed for five patients on their hand anomalies. We retrospectively reviewed the medical records and radiographs of our cases, and we tried to classify them by the previously suggested systems. We evaluated the functional improvement and measured the VAS scale for parental satisfaction with the operative outcomes. RESULTS: We could not find any problems during the fetal periods or any hereditary features. The bilaterally-affected patients also had deformities of the lower extremity, while the unilaterally-affected patients did not. We couldn't classify our cases according to the Frantz and O'Rahilly system. We found that the classifications suggested by Tytherleigh-Strong and Hooper (2003) and Goldfarb et al. (2005) could be promising alternatives for classification. One upper extremity was classified as type A, one as type B, and 7 as type C by Tytherleigh-Strong and Hooper's system. Using the Goldfarb's system, two upper extremities were classified as proximal radial longitudinal dysplasia, and seven were classified as proximal ulnar longitudinal dysplasia. Three patients who underwent pollicization showed opposition and tip pinch. Two patients who underwent syndactyly division could do lateral pinch. The VAS scale for parental satisfaction with the functional improvement averaged 8.2 postoperatively. CONCLUSION: The bilateral cases had different clinical features from unilateral ones. Phocomelia could not simply be classified by the Frantz and O'Rahilly system, and it may not be a true transverse intercalary deficiency. We could gain functional improvement after operations on the hand anomalies.

A case of Roberts syndrome

Roberts syndrome is an autosomal recessive disorder accompanied by limb defects, craniofacial abnormalities, pre-and postnatal growth retardation. Patients with Roberts syndrome have characteristic premature separation of heterochromatin of many chromosomes and abnormalties in celldivision cycle. We have experienced a case of Roberts syndrome in an immature neonate The patients showed characteristic clinical features of multiple, severe facial mid-line clefts, and tetraphoco-amelia. The brief review of the literlature was made.