PRENATAL DEATH IN FRASER SYNDROME
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Abstract:
Cryptophthalmos may be partial or complete, unilateral or bilateral, apparently nonsyndromal or syndromal. A recent study of 2 stillborn infants at the University of Utah prompted an analysis of the developmental aspects of the syndromal form (Fraser syndrome). We conclude that, per se, cryptophthalmos is a developmental field defect on the basis of heterogeneity (autosomal dominant and recessive forms) and phylogeneity (occurrence also in the pheasant, rabbit, pigeon, dog, and mouse). In humans this autosomal recessive disorder maps to 4q21, is homologous to the bleb (bl/bl) mouse, and is due to mutations in the FRAS1 gene that codes for a 4007 amino acid protein 85% identical to the Fras1 gene of the bleb mouse. Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects. Almost half of affected infants are stillborn or die in infancy, and mental retardation is common. The pathogenesis evidently involves abnormal epithelial integrity during prenatal life. Older (mostly German) publications, some dating to the 19th century, provide a fascinating historical insight into the process of syndrome delineation.Keywords:
Syndactyly
Renal agenesis
Congenital disorder
Pathogenesis
Four families with the cryptophthalmos‐syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos‐syndactyly syndrome and may serve as one of diagnostic criteria for this entity.
Syndactyly
Renal agenesis
Agenesis
Aplasia
Dysostosis
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Fraser syndrome is an autosomal recessive disorder characterized by cryptophthalmos and cutaneous syndactyly. We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis. We also present the major and minor diagnostic criteria for Fraser syndrome and the frequency of associated malformations.
Syndactyly
Renal agenesis
Anal atresia
Agenesis
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Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue syndactyly.
Syndactyly
Hand deformity
Congenital disorder
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Pachygyria
Congenital disorder
Microcephaly
Genetic disorder
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: We report a 6-year-old girl with multiple congenital anomalies compatible with Fraser syndrome (cryptophthalmos, syndactyly, and craniofacial abnormalities) and multiple urogenital abnormalities including unilateral renal agenesis resulting from mutations in the FRAS1 gene Exon58:C. 8698G-T (homozygous). The parents were heterozygous for the same mutation.
Syndactyly
Renal agenesis
Agenesis
Girl
Dysostosis
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Amniotic band syndromeis a rare congenital disorder which associated with physical abnormalities suchas disruption, deformation, and malformations of organs. The most common abnormalities usually involvethe limbs that could range from simple constriction rings to complete amputation.In this case report, wereport anamniotic band syndrome with unique clinical presentations. The case was a new born male babywho was normally delivered and presented with a ring-like constriction at over middle right lower limband fusion (syndactyly) of left lower limb and right arm. In this report we also discuss different diagnosticmodalities which could be used in diagnosingamniotic band syndrome, the risk factors, type of amnioticband syndrome, post-natal diagnose, as well as the therapy.
Amniotic Band Syndrome
Syndactyly
Amniotic Band
Constriction
Congenital disorder
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Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be established after clinical examination. We present the clinical findings of a rare case of Fraser syndrome with lethal phenotype due to bilateral renal agenesis in a female stillborn.
Syndactyly
Renal agenesis
Genetic disorder
Craniofacial abnormality
Agenesis
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Abstract Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2 .
Syndactyly
Renal agenesis
Congenital malformations
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Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected.
Hydranencephaly
Renal agenesis
Congenital malformations
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