Cases reported "Amniotic Band Syndrome"

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1/29. Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.

    We report a Brazilian boy, born to consanguineous parents. On the left arm there was a proximal 'ring shaped' constriction, regional aplasia cutis, and a short hand with markedly hypoplastic fingers and nails 2-3. He also had a bilateral cleft lip/palate, preaxial polydactyly involving the distal phalanx of the left index finger, and a supernumerary nipple on the right. The differential diagnosis is discussed.
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2/29. 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.
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3/29. 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].
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4/29. Bilateral cleft lip and palate and limb deformities: a presentation of amniotic band sequence?

    We report a case of a child born with bilateral complete cleft lip and palate, absence of the left lower leg, complete absence of the right arm, and absence of the second and third distal phalanges of the right foot. The child had no other associated abnormalities. Prenatal ultrasonography recognized the cleft lip and palate but failed to appreciate the limb deformities. Although this specific constellation of abnormalities has not been previously reported in the English literature, it may represent an amniotic band sequence or two unrelated anomalies. However, unlike the vast majority of patients with amniotic band sequence described, there were no associated bizarre facial clefts or cranial defects. The case history and a review of the literature will be presented, with emphasis placed on categorization of these specific anomalies.
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5/29. The Tessier number 5 cleft with associated extremity anomalies.

    OBJECTIVE: Oblique facial clefts are rare congenital deformities. They constitute 0.22% of all facial malformations. In this case report, an oblique facial cleft defined as Tessier number 5 is presented. The number 5 cleft of Tessier is one of the most rare congenital facial clefts; review of the literature revealed 20 patients. This case was also demonstrated with associated limb anomalies, suggesting that the patient may have been affected by the amnion rupture sequence. The teratology of these malformations is discussed, and attention is drawn to the amniotic rupture sequence as a possible cause.
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6/29. 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.
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7/29. Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients.

    The amniotic band sequence is a rare congenital condition in which it is hypothesized that fibrous band of amniotic tissue result in variable soft tissue derangements. Other terms that have been used to describe this condition are amniotic band syndrome and amnion rupture sequence. patients may present with craniofacial, thoracic, abdominal, and/or limb involvement. Previous reports have described the association between the amniotic band sequence and unusual patterns of facial clefting, as described by Tessier, that do not follow normal embryonic lines of fusion [Keller et al., 1978; Bagatin et al., 1997]. We describe three successive cases of the amniotic band sequence, which presented with rather typical facial clefts (cleft lip and palate) in unrelated patients.
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8/29. Nonadjacent syndactyly in the congenital constriction band syndrome.

    hand anomalies in the amniotic band sequence are frequently both complex and difficult to explain in terms of our conventional understanding of limb embryogenesis. A case manifesting pseudosyndactyly between nonadjacent fingers confirms the role of an in utero disturbance after the seventh week, in concert with close apposition between nearby but not adjacent parts.
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9/29. Rare causes of elevated maternal serum alpha-fetoprotein. A report of three cases.

    Three rare conditions--amniotic band disruption sequence, placental chorioangioma and congenital nephrosis--were diagnosed in midtrimester because of elevated maternal serum alpha-fetoprotein. The diagnosis is important for genetic counseling and obstetric follow-up.
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10/29. A counseling dilemma involving anencephaly, acrania and amniotic bands.

    A suggested fetal anencephaly on routine office ultrasound examination resulted in a diagnosis of fetal acrania when targeted ultrasonography was performed by a consultant. Following pregnancy termination, examination of the abortus revealed partial cranial destruction secondary to an amniotic band. It is often difficult to distinguish between anencephaly, acrania, and amniotic band sequence prenatally, but postnatal differentiation is imperative for accurate risk assessment in genetic counseling.
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