1/51. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/51. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
3/51. Splenogonadal fusion limb defect syndrome: report of five new cases and review.Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD) syndrome. In this article, we report on 5 new cases of SGFLD and we review the 25 cases reported since 1889. Most cases reviewed here have a combination of severe limb and oro-mandibular defects, suggesting that SGFLD may be related to the broader group of Hanhart complex. In addition, several cases have limb malformations and facial anomalies, which suggest that SGFLD overlaps with both femur-fibula-ulna dysostosis and femoral-facial syndrome. The hypothesis of a vascular disruptive event, occurring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. However, this heterogenous and polytopic condition could also be the consequence of a primary field defect. All the cases to date reported have been sporadic and the recurrence risk is probably low. However, a recent case of Roberts syndrome with SGF was reported that suggests careful examination of chromosomal status.- - - - - - - - - - ranking = 0.81196638933755keywords = gestation (Clic here for more details about this article) |
4/51. Brachmann-de lange syndrome: a cause of early symmetric fetal growth delay.Brachmann-de lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
5/51. Deep inferior epigastric perforator dermal-fat or adiposal flap for correction of craniofacial contour deformities.Craniofacial contour deformities are difficult to reconstruct. This article summarizes the authors' use of deep inferior epigastric perforator dermal-fat or adiposal flaps in eight patients with such deformities. Of these patients, three had traumatic craniofacial or facial deformities, one had congenital craniofacial deformity, two had hemifacial atrophy (one because of radiation), one had hemifacial microsomia, and one had localized frontonasal lipodystrophy. Stable restoration of the facial contour was achieved in all eight patients. The advantages of this flap are numerous. It has minimal donor-site morbidity, because the rectus abdominis muscle is preserved as a whole, and it accommodates pregnancy in female patients. Simultaneous elevation of this flap during preparation of the recipient site makes it possible to complete surgery in a shorter time than with the scapular flap. Furthermore, a considerable amount of the superficial or deep fatty layer can be removed primarily, making a bulky flap into a thinner one. This flap also allows the use of a large transverse abdominal ellipse of skin, fat, and Scarpa's fascia with abdominoplasty closure. Conversely, it requires a technically difficult dissection of the muscle perforator and skin grafting of donor defects in patients with a large dermal-fat flap. Also, additional minor operations may be necessary to reduce fat volume around the perforator. Ultimately, the deep inferior epigastric perforator adiposal flap seems to be suitable for craniofacial contouring surgery. It is especially indicated for use in children and female patients who are expecting to have children.- - - - - - - - - - ranking = 0.18803361066245keywords = pregnancy (Clic here for more details about this article) |
6/51. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 0.18803361066245keywords = pregnancy (Clic here for more details about this article) |
7/51. Excessive growth in a girl with Weaver syndrome.A 24 month-old female with Weaver syndrome who has the most severe overgrowth among reported cases is presented. Prenatal history was remarkable for maternal hydantoin use throughout pregnancy. In addition to all major features of the syndrome, she displayed some novel features, including patent ductus arteriosus, atrial septal defect and diffuse thinning of the corpus callosum. Initially, carpal bone age was more advanced compared to phalangeal bone age, as expected in Weaver syndrome. However, phalangeal bone age caught up with carpal bone age during the follow-up period, suggesting that dysharmonic bone age advancement is an early feature of Weaver syndrome. The apparent male predominance in Weaver syndrome is generally ascribed to milder expression of the syndrome in females. The present patient, showing the most severe expression of the syndrome, refutes the notion that females with Weaver syndrome may have a milder form of the syndrome.- - - - - - - - - - ranking = 0.18803361066245keywords = pregnancy (Clic here for more details about this article) |
8/51. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 0.18803361066245keywords = pregnancy (Clic here for more details about this article) |
9/51. Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22-year-old, mother. polyhydramnios and multiple congenital anomalies were noted by ultrasonography; the infant died 5 min after birth. At autopsy, the infant had multiple defects of blastogenesis including midline anomalies with asplenia and abnormalities of laterality formation. The laterality defects were unusual in that they combined asplenia with hypoplastic, symmetrically unilobate lungs and bilateral hyparterial bronchi more consistent with polysplenia, abdominal situs inversus with midline stomach, symmetric liver, and left gallbladder. No intracardiac abnormalities were present, but there was azygous continuation of the inferior vena cava. Additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; Dandy-Walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. Defects of laterality frequently are associated with other complex midline anomalies, which both result from a disturbance of pattern formation during blastogenesis, i.e., the induction of the progenitor fields. The latter are the result of the establishment of upstream expression domains of growth and transcription factors and other morphogens. Many of these and other genetic systems, expressed asymmetrically around the midline, are responsible for laterality formation and are the result of upstream and subsequent downstream gene expression cascades through the expression of genes such as HOX genes; bFGF; transforming growth factor beta/activins/BMP4; WNT-1,8; and SHH.- - - - - - - - - - ranking = 0.81196638933755keywords = gestation (Clic here for more details about this article) |
10/51. prenatal diagnosis in coffin-lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.coffin-lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene. In the present report, a male patient affected with coffin-lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. His unaffected mother does not have this mutation in her lymphocytes. In her third pregnancy prenatal diagnosis by mutation analysis has detected gonadal mosaicism. As this is the second report of germinal mosaicism in coffin-lowry syndrome, the finding has important implication for genetic counselling.- - - - - - - - - - ranking = 0.18803361066245keywords = pregnancy (Clic here for more details about this article) |
| | Next -> |