Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome. CASE REPORT (original) (raw)
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Ultrasound in Obstetrics and Gynecology, 2004
Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.
Acrocallosal syndrome in fetus: focus on additional brain abnormalities
Acta Neuropathologica, 2008
Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly and severe mental retardation. Here we report the two first descriptions of acrocallosal syndrome in fetus with extensive neuropathological study and provide new data regarding additional brain abnormalities in ACS. The first case was a 25-gestational week male fetus displaying craniofacial and limb abnormalities, with bilateral syndactyly of the fourth and fifth fingers, preaxial polydactyly of the left foot and an inter-frontal extra-bone. The second fetus was a 33-gestational week male fetus. His left hand displayed a broad thumb and 4/5 syndactyly. In both cases, gross examination of the brain showed an absence of corpus callosum associated with interhemispheric cysts. The cerebral cortex in front of the cysts was nodular. Upon microscopic examination, the nodular masses corresponded to large dysplastic areas represented by clusters of undifferentiated neurons in the white matter. The cyst wall showed arachnoidal and ependymal covering and contained numerous choroid plexus, suggesting a developmental abnormality of the ventricles. The pons and the cerebellum were hypoplastic. The dentate nuclei were fragmented. Numerous neuronal heterotopias associated with ectopic ependymal cavities were observed in the vermis in one case. The olivary nuclei were severely dysplastic too. We hope that these new data will make both the ante- and post-natal diagnosis easier, facilitate comparisons with animal models and encourage the identification of the genes responsible for this syndrome.
Oculo-cerebro-renal syndrome. Report of a case in a baby girl
British Journal of Ophthalmology, 1970
The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genetic pattern has been consistent with an X-linked recessive mode of inheritance. Consequently, only males have been afflicted with this condition (Chutorian and Rowland, I966; Schwartz, Hall, and Gabuzda, I964; Svorc and others, I967). Moreover, to the best of our knowledge, no case has been reported in a Negro subject. We have had the opportunity to study a Negro female child with clinical and laboratory findings consistent with the diagnosis of Lowe's syndrome. The current report is concerned with these findings and a discussion of the implication. Case report A io-day-old female infant was first admitted to the Flower and Fifth Avenue Hospitals Division of the New York Medical College with bilateral cataracts and megalocornea. The family history and pregnancy were entirely unremarkable. The general physical examination disclosed only ocular abnormalities which consisted of enlarged oedematous corneae. Examination under general anaesthesia revealed the corneal diameters of both eyes to be II mm. Posterior synechiae were noted in both eyes and scale readings with the Schi0tz tonometer with the 7 5 g. weight were recorded as 4-5 and 7-5 mm. Hg on the right and left respectively. Laboratory studies disclosed 3 + proteinuria and generalized amino-aciduria. Blood amino acid levels were normal. Chromosome studies revealed a normal female karyotype. A bone marrow biopsy was negative for cystine crystals. Urine tests for cytomegalic inclusion disease and blood tests for rubella antibodies both gave negative results. Investigations for toxoplasmosis and mucopolysaccharidosis also gave negative results. The patient was again admitted to hospital 5 months later, when she was noted to be small, underdeveloped, hypotonic, and hypoactive (Figure), having gained only 6 lb. in the first 8 months of life. The ocular findings at this time were unchanged, but mild hepatosplenomegaly and motor and mental retardation were observed. Urine was negative for galactose but showed generalized amino-aciduria and revealed the presence of proline and hydroxyproline. A bone survey at this time showed no evidence of rickets. An ammonium loading test was performed and showed normal renal production of ammonia in response to an induced metabolic acidosis. Examination under general anaesthesia revealed corneal diameters of 12-5 and I3 mm. on the right and left respectively. Schi0tz tonometer readings with 7 5 g. weight were 3 o and 3 5 mm. Hg on the right and left respectively. A direct goniotomy was performed at this time on the right eye.
2012
OBJECTIVE To describe the prenatal diagnosis, characteristics, development, perinatal outcome, and final diagnosis of pregnancies complicated by fetuses with major craniofacial defects, at the Instituto Nacional de Perinatologia, México, 1997-2008. MATERIAL AND METHODS A retrospective, descriptive study from January of 1997 to January 2008, analyzed 152 pregnancies complicated by fetuses with major craniofacial defects, diagnosed at the Department of Fetal Medicine of the National Institute of Perinatology. Data were obtained from patients clinical records. RESULTS . The mean age was 28 +/- 8 years, with the largest number of cases between 20 and 24. The mean gestational age at diagnosis was 27.5 +/- 6.4 gestational weeks. The average termination of pregnancy was at 35 +/- 5 gestational weeks. In 43.4% of cases there were no major structural defects associated with the facial defect. The most commonly associated structural alterations were cerebral, cardiac, and limb abnormalities. ...
Antenatal Diagnosis of Prenatal Cortical Hyperostosis: Case Report
Turkiye Klinikleri Journal of Gynecology and Obstetrics, 2014
Caffey disease or cortical hyperostosis is characterized by massive subperiostal new bone formation at diaphyses of long bones mandible and clavicle as a result of a multifocal inflammatory skeletal process and classified into two forms regarding the onset of the disease: infantile form and prenatal form. Prenatal form with earlier onset tends to be more severe and a less frequently encountered diagnosis while late onset infantile form is usually presents with a self limiting disease. Polyhydramnios, irregularly shaped bones and hepatomegaly should raise suspicion about this rare disease when detected on ultrasonographic examinations. Here we present a case of severe prenatal cortical hyperostosis diagnosed by ultrasonographic examinations performed at 31 weeks of gestation that was revealed to have polyhydramniosis, hepatomegaly, pulmonary hypoplasia and irregularly shaped long bones.
A case of severe type of cerebro-costo-mandibular syndrome
Srpski arhiv za celokupno lekarstvo
Introduction. Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35-50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. Case Outline. In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by ch...
Anatolian Current Medical Journal, 2022
Introduction: Fetal cerebellar malformations (FCM) are known as very rare central nervous system malformations that occur as hypoplasia or agenesis of the cerebellum or vermis. In this study, the characteristics, diagnostic methods, risk factors and management of pregnant women diagnosed with FCM in the prenatal period were investigated. Material and Method: The patients who diagnosed with prenatal FCM in the perinatology center between March 2017-February 2021 were included, retrospectively. The frequency of fetal magnetic resonance imaging (MRI), amniocentesis and/or karyotype analysis rates, and termination frequency were evaluated. In addition, the factors affecting the amniocentesis and the termination/follow-up decision were investigated. Results: A total of 42 pregnant with FCM were included. The median gestational age was 24.0 years, and the mean gestational week was 25+2 (SD±5+1) weeks. Nearly half (40.5%) of patients were diagnosed before 24 weeks of gestation and 45.2% were primiparous. Cerebellar hypoplasia was observed in 47.6%, while vermis agenesis was observed in almost one third (31.0%); and also 19.0% had multiple FCM. The fetal USG was used in all pregnant women, fetal MRI was performed in only 4.8% for diagnosis of FCM. The rate of amniocentesis and karyotype analysis were 11.9% and 7.1%, retrospectively. No any complications were observed after the amniocentesis. The termination rate was 30.9%. The mean gestational week of those who had live birth was higher than those who were terminated (24+4 vs 20+5) (p=0.019). Conclusion: The frequency of FCM diagnosis has increased with the development of modern medicine and technology. There is no relationship between demographic characteristics of pregnant women and FCM. Socioeconomic levels and religious belief differences affect the termination and birth rates.