Mermaid syndrome associated with VACTERL-H syndrome.

Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature. A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome.Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development.

Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association.

Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney. MRI at 31 weeks' gestation suggested lobar type holoprosencephaly. Diagnosis of VACTERL association was confirmed postnatally. We consider that vesico-amniotic shunting is indicated for a fetus of VACTERL association with LUTO if the parents wish the procedure after genetic counseling and explanations about the fetal conditions.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H / Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome

El síndrome VACTERL-H es un trastorno complejo de malformaciones congénitas que implica vértebras, ano, corazón, tráquea, esófago, riñones, extremidades (del inglés limbs) e hidrocefalia. Su etiología se ha identificado sólo en algunos pacientes debido, en gran medida, a su naturaleza esporádica, así como a su alto grado de heterogeneidad clínica. En este informe se presenta a un neonato con el síndrome VACTERL-H, al que se asocian anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso, que se comparan con las descritas en la bibliografía médica. Según nuestra experiencia, esta presentación no sólo amplía el conocimiento del espectro de anomalías que se puede presentar en el síndrome VACTERL-H, sino que también podría ser útil en la identificación de pacientes con este fenotipo heterogéneo.(AU)

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.(AU)

VACTERL-H syndrome: first trimester diagnosis.

We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation.