1/9. Expanded mobius syndrome.A woman presented at 33 weeks gestation with reduced fetal movements and a nonreactive nonstress test. Fetal ultrasound examination revealed a peculiar unilateral arm tremor. At emergency cesarean section, performed for fetal indications, a 1,672-gm male infant was delivered requiring intubation for feeble respiratory effort. After delivery the neonate was transiently hypertonic and later hypotonic. Continuing ventilatory support at minimal settings was necessary. The work-up for aneuploidy, metabolic disorders, and infection was negative. The infant died after being removed from ventilatory support on day 22. Postmortem examination revealed extensive bilateral brain gliosis and mineralization without evidence of inflammation, partial absence of cranial nerve nuclei III-XI, and a total absence of cranial nerve roots VI-XI. Together these finding are compatible with a diagnosis of expanded mobius syndrome.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/9. mobius syndrome associated with ventricular septal defect.We report a 10-year-old boy with mobius syndrome (MS) associated with ventricular septal defect who was delivered after an unsuccessful curettage before the 10th week of gestation. Methylergobasine which is an ergot alkaloid was also applied during the curettage procedure. Despite of the curettage procedure, the pregnancy was continued and he was delivered. His developmental milestones were delayed. On account of this case, we think that direct mechanical fetal trauma and vasoconstriction or both may cause MS. But, further extensive studies are needed to verify this hypothesis.- - - - - - - - - - ranking = 1.6530243717591keywords = gestation, pregnancy (Clic here for more details about this article) |
3/9. subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies.Fetal vascular disruptions can cause specific patterns of birth depending on the location, extent and timing of the disruptive event in the embryonic life. An example of this is subclavian artery supply disruption sequence occurring around 6 weeks of gestation which causes various combinations of poland, Klippel-Feil and Mobius anomalies. A one-month-old child with features of all three anomalies along with other associated features is described here.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/9. A case of Moebius syndrome in association with klinefelter syndrome.PURPOSE: To describe an infant affected by klinefelter syndrome, who also demonstrated clinical signs of Moebius syndrome. methods: A clinical case report. RESULTS: A male infant was born full-term to a healthy couple after an unremarkable pregnancy. Several dysmorphic features and generalized hypotonia were noted at birth. Chromosome study revealed a 47, XXY chromosome pattern, which is consistent with klinefelter syndrome. The patient also demonstrated clinical findings of Moebius syndrome: bilateral horizontal gaze palsy, bilateral cranial nerve seven palsy, pointed tongue, pectoral muscle hypoplasia, and clubfeet. CONCLUSION: We report the first clinical case of a patient with klinefelter syndrome who was also affected by Moebius syndrome. Although clinically intriguing, coexistence of the two syndromes most likely represents a chance occurrence.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |
5/9. Mobius sequence in children exposed in utero to misoprostol: neuropathological study of three cases.BACKGROUND: misoprostol exposure in the first trimester of pregnancy has been related to congenital malformations, particularly the Mobius sequence and terminal transverse limb defects. CASES: Neuropathological findings of three patients with Mobius sequence related to misoprostol are reported. No previous pathological studies have shown these abnormalities to be associated with misoprostol exposure in utero. The brain stem was cut serially, from the rostral mesencephalum to the caudal aspect of the medulla, and all fragments were stained with hematoxylin-eosin and cresyl violet. Old ischemic-anoxic foci of gliosis, with necrosis and calcification, dorsally situated, were present from the pons to the medulla, involving some cranial nerve nuclei (especially the IV, VII, and XII) that were partially or completely depopulated of neural cells. CONCLUSIONS: The findings suggest a circulatory mechanism to the Mobius sequence, with vascular disruption involving the territory of the subclavian artery, occurring in a critical period of embryonic life between six to eight weeks postconception. These cases add further evidence of the role of misoprostol as a teratogen.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |
6/9. Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.We report on nine unrelated children fitting a diagnosis of Carey-Fineman-Ziter syndrome (CFZS). All children presented with Mobius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, and acral anomalies. The neuropathological investigations performed in two patients showed a combination of dysplastic lesions (neuronal heterotopias) and encephaloclastic changes consisting of small foci of necrosis with microcalcifications. The mother of a third child had severe trauma during her 2nd month of pregnancy. Based on a review of the literature on MS and CFZS, we suggest designating as "Robin-Mobius phenotype" a distinct clinical variant of MS with extensive brainstem involvement, Robin complex, hypotonia without specific muscle disorder, clubfeet and variable acral anomalies. This condition appears to bear a higher risk of mental handicap and perhaps a higher recurrence risk than "common" MS. Neuropathology and neuroimaging are suggestive, at least in some cases, of a vascular disruption, which could be exogenous, or secondary to a genetic predisposition. Etiologic heterogeneity seems likely and, in that respect, the original CFZS family could represent a private syndrome fitting on the "Robin-Mobius" spectrum. Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |
7/9. ergotamine as a possible cause of Mobius sequence: additional clinical observation.A case of Mobius sequence after exposure to ergotamine during early development is reported. Vascular disruption is one of the theories explaining the pathogenesis of Mobius sequence. ergotamine can cause vasospasm and a prolonged and marked increase in uterine tone. This is the second report suggesting a relation between maternal ingestion of ergotamine in early pregnancy and subsequent Mobius sequence in a child.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |
8/9. poland-mobius syndrome and cocaine abuse: a relook at vascular etiology.This report presents a severe case of poland-mobius syndrome with central apnea at birth, ventilator-dependent, and with brainstem calcifications. The newborn had unilateral defect of the right pectoralis muscle, breast, and limb. He manifested bilateral paralysis of the cranial nerves resulting in shallow respiration, apnea, and dysphagia. He finally required tracheostomy and gastrostomy. Maternal history revealed multiple uses of cocaine during the first 3 months of pregnancy. The patient supports the poland-Mobius combination and the possibility of vascular disruption sequence.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |
9/9. A case of mobius syndrome--radiological and electrophysiological findings.mobius syndrome is characterized by congenital bilateral facial palsy and abducens nerve paralysis, but reports of radiological and electrophysiological findings are scarce. A 4-year-old boy presented with mask-like facies noted at birth after a 34-week pregnancy. Examination revealed bilateral facial and abducens nerve paralysis with no other neurological abnormalities. Computed tomography revealed bilateral absence of facial nerve canal in the middle ear. Brain magnetic resonance imaging indicated a narrow than expected nerve in the internal auditory canal (IAC). Evoked electromyography and blink reflex testing to evaluate facial nerve function yielded no responses bilaterally. Facial palsy thus appears to be caused by facial nerve dysplasia or aplasia.- - - - - - - - - - ranking = 0.65302437175907keywords = pregnancy (Clic here for more details about this article) |