Sirenomelia associated with VACTERL and VACTERL-H syndrome / Sirenomelia asociaciada con síndrome de VACTERL y VACTERL-H

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.

La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.

Postnatally diagnosed agenesis of corpus callosum in fetuses.

OBJECTIVES: To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC. METHODS: The subjects of observation are 20 fetuses from a total of 2238 autopsies carried out during a period of three years (2006-2009) in Tunis. RESULTS: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akinesia syndrome, Dandy-Walker Malformation and the Association VACTERL are represented by two cases each. CONCLUSION: The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.

Gender and associated skeletal abnormalities in fetuses with neural tube defects.

OBJECTIVE: To determine the association between gender and skeletal defects in fetuses with NTDs. METHODS: 150 NTD fetuses have been examined in three years' course (01.2006-01.2009) in the Clinic of Fetopathology at the Center for Maternity and Neonatology, Tunis. RESULTS: The most common gender associated anomalies for males are cleft palate, anomalies in the form and attachment of the outer ear and the agenesis of corpus callosum. For women, they are distortions of the spine and "frog" face. CONCLUSION: The proven associations in the study are important indicators in the purposeful search for NTDs in early prenatal ultrasound diagnosis.