ABSTRACT
Se describen tres casos de síndrome de hidroletalus, dos en hermanos. El trastorno fue descrito inicialmente en finlandeses y ha sido reseñado pocas veces en personas de otros origenes. La anomalía es letal y se caracteriza por polihidroamnios severo, hidrocefalia, polidactilia y fisura labial y palatina, entre otros defectos. El diagnóstico es clínico. Se debe diferenciar de otros síndromes de la linea media como el orofaciodigital (IV y VI), Smith Lemli Opitz, Pallister Hall, Meckel, trisomia 13 y seudotrisomia 13. Se hereda en forma autosómica recesiva por lo que su identificación es muy importante para los efectos del consejo genético
Subject(s)
Humans , Male , Infant, Newborn , Abnormalities, Multiple/diagnosis , Clinical Diagnosis , Abnormalities, Multiple/genetics , Chromosome Aberrations/diagnosis , Cleft Palate/complications , Hydrocephalus, Normal Pressure/complications , Polydactyly/complications , Polyhydramnios/complicationsABSTRACT
A study of 23 neonates with congenital duodenal obstruction is reported. Their mean gestational age was 38 weeks and mean weight was 2.2 kg. Main clinical features observed were vomiting (100%), which was bilious in 74%, and epigastric fullness with visible peristalsis (74%). Plain X-ray abdomen confirmed the diagnosis in 78%. Associated congenital malformations were seen in 39% of cases. Eleven babies had an intrinsic defect, 11 had extrinsic defect and one baby had combination of intrinsic and extrinsic defect. Malrotations along with band was seen in 39% of cases. Reported mortality was 39%.
Subject(s)
Amniotic Band Syndrome/complications , Duodenal Obstruction/complications , Female , Humans , India/epidemiology , Infant, Newborn , Intestinal Atresia/complications , Male , Polyhydramnios/complications , PregnancyABSTRACT
A 22 years old, gravida 3, para 2 woman was admitted to the hospital with preterm labor which was a 23rd week pregnancy. The diagnosis of partial hydatiform mole and polydramnios was made after delivery and confirmed by histologic findings. The post-operative did not present any aspect worth registering. The patient was discharged two days after delivery in excellent conditions.