Fraser syndrome (cryptophthalmos‐syndactyly syndrome): A review of eleven cases with postmortem findings

Pa, Boyd; Jw, Keeling; Rh, Lindenbaum

doi:10.1002/ajmg.1320310119

Cited by 77 publications

(56 citation statements)

References 12 publications

(4 reference statements)

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“…Approximately 45% of human cases are stillborn or die within the first year, primarily because of pulmonary and͞or renal complications (2). The phenotypic similarities between these patients and five mouse ''blebbing'' mutants, blebbed (bl), myelencephalic blebs (my), eye blebs (eb), head blebs (heb), and fetal haematoma, suggested these mutant mice represent animal models of Fraser syndrome (3).…”

mentioning

confidence: 99%

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Kiyozumi

Sugimoto

Sekiguchi

2006

Proc. Natl. Acad. Sci. U.S.A.

109

178

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An emerging family of extracellular matrix proteins characterized by 12 consecutive CSPG repeats and the presence of Calx-␤ motif(s) includes Fras1, QBRICK͞Frem1, and Frem2. Mutations in the genes encoding these proteins have been associated with mouse models of Fraser syndrome, which is characterized by subepidermal blistering, cryptophthalmos, syndactyly, and renal dysmorphogenesis. Here, we report that all of these proteins are localized to the basement membrane, and that their basement membrane localization is simultaneously impaired in Fraser syndrome model mice. In Frem2 mutant mice, not only Frem2 but Fras1 and QBRICK͞Frem1 were depleted from the basement membrane zone. This coordinated reduction in basement membrane deposition was also observed in another Fraser syndrome model mouse, in which GRIP1, a Fras1-and Frem2-interacting adaptor protein, is primarily affected. Targeted disruption of Qbrick͞Frem1 also resulted in diminished expression of Fras1 and Frem2 at the epidermal basement membrane, confirming the reciprocal stabilization of QBRICK͞ Frem1, Fras1, and Frem2 in this location. When expressed and secreted by transfected cells, these proteins formed a ternary complex, raising the possibility that their reciprocal stabilization at the basement membrane is due to complex formation. Given the close association of Fraser syndrome phenotypes with defective epidermal-dermal interactions, the coordinated assembly of three Fraser syndrome-associated proteins at the basement membrane appears to be instrumental in epidermal-dermal interactions during morphogenetic processes.epithelial-mesenchymal interaction ͉ gene targeting ͉ morphogenesis T he extracellular matrix (ECM) is an insoluble supramolecular complex surrounding metazoan cells that is often fibrous or sheet-like. The ECM functions in the control of cellular behaviors, including migration, proliferation, and differentiation, and mediates intercellular communication, as in epithelialmesenchymal interactions; both of these functions are critical during development. Because individual ECM components often function in combination with other ECM components and soluble factors, genetic disorders of the ECM are often linked to severe developmental abnormalities.

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mentioning

confidence: 99%

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Kiyozumi

Sugimoto

Sekiguchi

2006

Proc. Natl. Acad. Sci. U.S.A.

109

178

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“…Kızlarda klitoromegali, uterus hipoplazisi, uterus bikornus, vaginal agenezis, vaginal hipoplazi, imperfore vagina, labiumlarda yapışıklık, hidrometrokolpos, erkeklerde kriptorşizim, mikropenis, hipospadias, fimozis ve skrotal hipoplazi görülmektedir (4)(5)(6)(7)(8)(9). Bizim olgumuzda Gastrointestinal malformasyonlar içinde en sık imperfore anüs, daha az sıklıkla anal atrezi/stenoz ve umblikal herni görülür.…”

Section: Discussionunclassified

Fraser Syndrome: A Report of Two Cases

Kılınç¹,

Demir²,

Demir³

2015

Haseki

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“…4 Antenatal ultrasound finding as early as 18 weeks of gestation has been suggested to help in making the diagnosis of Fraser syndrome for possible termination of pregnancy, particularly in families with affected sibs. Schauer et al 5 have found that antenatal renal agenesis, orbital abnormalities and increased thoracic volume are characteristic manifestations of Fraser syndrome.…”

Section: Discussionmentioning

confidence: 99%

Cryptophthalmos Syndrome (Fraser Syndrome) with Cardiac Findings in a Saudi Newborn

Aqeel

Al‐Alaiyan

1999

Ann Saudi Med

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Fraser syndrome (cryptophthalmos syndrome) is a rare autosomal recessive disorder. 1 The most consistent features are cryptophthalmos, a broad and depressed nasal bridge, malformed ears, syndactyly of fingers and toes, abnormal genitalia, craniofacial skeletal defects, renal agenesis, and laryngeal stenosis. These anomalies were first documented by Fraser in 1962. 2 We report the case of a full-term newborn who had multiple abnormalities consistent with cryptophthalmos syndrome. In addition, the newborn had a total anomalous pulmonary venous return (TAPVR), which is a new finding in patients with this syndrome. To the best of our knowledge, this is the first report of Fraser syndrome with cardiac lesion (TAPVR) in a Saudi infant. Case ReportA 29-year-old Saudi woman, gravida 7 para 4, had a history of two abortions and three healthy children. She also had a history of a spontaneous vaginal delivery of a male infant with multiple malformations, including complete cryptophthalmos in both eyes, small malformed ears, syndactyly of all fingers, and cleft lip. The infant died 30 minutes after birth in a peripheral hospital, and thus, details were not available.The parents of this infant were second-degree cousins, and his cousin on the paternal side died immediately after birth with similar features. Ultrasound examination of the mother at 28 weeks' gestation demonstrated fetal ascites and unidentified urinary bladder and absent kidneys. At 33 weeks' gestation, ultrasound showed ascites, small left kidney, absent right kidney, thick-walled bladder, oligohydramnios, and increased echogenicity of the right lung. Fetal echocardiogram showed evidence of TAPVR and pericardial effusion. Screening for toxoplasmosis, rubella, syphilis, herpes simplex and cytomegalovirus was negative. Chromosomal study revealed normal male karyotype (46,XY). Pregnancy was induced at 39 weeks and the mother gave birth to a dysmorphic infant who never established spontaneous respiration. Bag and mask ventilation was initiated, but the infant died 20 minutes after delivery. The birth weight was 3.13 kg, length was 47 cm, and head circumference was 32 cm. He was found to have complete cryptophthalmos on the right side and partial cryptophthalmos in the left eye with no eyelashes or eyebrows, and the skin passed unbroken from the brow to cheek (Figure 1). A broad and depressed nasal bridge, soft tissue syndactyly of all fingers and toes and hypoplastic scrotum with bilateral cryptorchidism, were noted in the infant (Figure 2). Furthermore, severe laryngeal stenosis resulted in failure of several attempts of intubation with 2.5 mm endotracheal tube. The chest x-ray showed unareated lung with an opaque lesion in the right middle and lower lobes. Postmortem examination was not permitted by the family.

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Fraser syndrome (cryptophthalmos‐syndactyly syndrome): A review of eleven cases with postmortem findings

Cited by 77 publications

References 12 publications

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Fraser Syndrome: A Report of Two Cases

Cryptophthalmos Syndrome (Fraser Syndrome) with Cardiac Findings in a Saudi Newborn

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