1/16. Fetal acalvaria with amniotic band syndrome.A case of amniotic band syndrome (ABS) presenting with acalvaria is reported. ABS includes a spectrum of non-genetic anomalies, varying from simple digital band constriction to major craniofacial and visceral defects, and even fetal death. Acalvaria is a rare congenital malformation characterised by the absence of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones and dura mater, in the presence of a normal skull base and facial bones with complete cranial contents. No two cases are the same. Acrania or absence of the flat skull bones with disorganised cerebral hemispheres have been reported in the presence of amniotic bands. ABS is an aetiological factor in acalvaria. Appropriate counselling for affected families needs to be given after prenatal diagnosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/16. 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 = 23.707715868655keywords = nerve, organ (Clic here for more details about this article) |
3/16. Atypical presentation of amniotic band sequence.Amniotic Band Sequence (ABS) is a disruption sequence that results in a variable group of abnormalities secondary to the disruption process and subsequent deformations. The incidence of ABS ranges from 1:1,200 to 1:15,000 live-born, and is even higher in still-born [Froster and Baird, 1993: Am J Med Genet 46:497-500]. The pathophysiology of ABS remains controversial, but a close look to critical periods of embryogenesis and/or organogenesis has helped in understanding pathogenetic mechanisms leading to the ABS disruption. The abnormalities are typically limited to external structures; however, associated internal malformations as seen in the case reported here may occur [Hunter and Carpenter, 1986: Am J Med Genet 24:691-700]. The prognosis depends on the severity of the abnormalities and the involvement of internal organs [Froster and Baird; 1993: Am J Med Genet 46:497-500; Levy, 1998: Ped Rev 19:249].- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
4/16. Congenital constriction band syndrome causing ulnar nerve palsy: early diagnosis and surgical release with long-term follow-up.Three children with congenital constriction band syndrome affecting their upper extremities demonstrated clinical and electrophysiologic signs of a complete ulnar nerve palsy. Two of the children were diagnosed immediately postpartum with the subtle findings of an intrinsic minus posture of their hand and inability to actively extend their fingers at the proximal interphalangeal joints. One child had at least 5.5 months of intrauterine compression of the ulnar nerve detected by ultrasound examination at 18 weeks. Despite early release of the constriction bands, at 3 months in 2 children and at 6 months in 1 child, the ulnar nerve palsies persisted for a mean follow-up period of 7 years. If clinical examination of an infant with constriction band syndrome is indicative of a complete ulnar nerve palsy, the constriction band should be released as early as possible. If surgical exploration reveals significant compression of the ulnar nerve, consideration should be given to excising the involved segment of nerve with immediate primary nerve repair or nerve grafting because even early release of the constriction band does not seem to result in neurologic improvement in long-term follow-up studies.- - - - - - - - - - ranking = 212.49259042385keywords = nerve (Clic here for more details about this article) |
5/16. intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?We present a case of a peculiar rudimentary occipital meningocele that was surgically removed when the patient (a boy) was 5 months of age. The patient also had distal transverse defects of both hands. The association of congenital scalp defects and distal congenital hand anomalies is relatively rare and one form is known as the Adams-Oliver syndrome. To our surprise, microscopic examination revealed intestinal mucosa on top of the skin tag containing the rudimentary meningocele. No comparable cases were found in the literature. We discuss the following possible explanations for this peculiar situation: 1) disorganization-like syndrome; 2) homeotic transformation; 3) abnormal surface encounter between the epidermis and remnants of the yolk sac or omphalo-enteric duct; and 4) endoectodermal adhesion in the presomite embryo.- - - - - - - - - - ranking = 5keywords = organ (Clic here for more details about this article) |
6/16. Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect?A female infant is presented in whom anomalies not commonly seen in amniotic band syndrome (ABS) included non-anatomic lumbopedal union by a skin pedicle, anorectal malformation, meningocele, vertebral segmentation defects, longitudinal limb defects, vestigial feet and skin papillae. The unusual, non-band related malformations in the proposita showed similarity to the mouse mutant Disorganization (Ds). This report, supports the suggestion that Ds-like mutations may cause some cases with apparent ABS associated with "skin pedicles".- - - - - - - - - - ranking = 5keywords = organ (Clic here for more details about this article) |
7/16. prenatal diagnosis of acrania associated with amniotic band syndrome.BACKGROUND: The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound. CASE: A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks' gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks' gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later. CONCLUSION: Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/16. Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.Amniotic band sequence (ABS) is a well-described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion-Almieda and Richieri-Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS-like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/16. Threatened lower extremity in a neonate from a severely constricting amniotic band: a case for limb salvage after a 6-year functional follow-up.A child presented at birth with a threatened lower limb from severe constriction band. limb salvage was performed by emergency z-plasty reconstructions and subsequent sural nerve grafting to a fibrotic segmental deficit in the sciatic nerve. Follow-up over a 6-year period enables us to provide a favorable outlook with regard to functional use of the extremity and absence of chronic lymphedema, but she does have a significant limb length discrepancy.There is virtually no information on long-term functional outcome of such cases, although textbook teaching advises one to attempt emergency salvage of an extremity that is threatened by a severely constricting congenital amniotic band. Follow-up of our patient equips us with outcome information so that we can now better inform parents when once again faced with this problem in the neonate.- - - - - - - - - - ranking = 35.415431737309keywords = nerve (Clic here for more details about this article) |
10/16. Peripheral nerve palsy associated with congenital constriction band syndrome.Of 21 patients with congenital constriction band syndrome treated in our clinic from 1967 to 1988, four had constriction bands proximal to the wrist. Three of these also had a peripheral nerve palsy. Late surgical decompression does not help but early diagnosis, using electrodiagnosis methods, and neurolysis or nerve grafting as soon as possible may improve nerve function.- - - - - - - - - - ranking = 123.95401108058keywords = nerve (Clic here for more details about this article) |
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