Renal agenesis

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).

Cryptophthalmos

Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.


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PMID (PMCID)
29120500
 FEMALE Young Adult
Oral healthcare in Fraser syndrome.
Hassona Y, Kharoub H, Scully C.
Spec Care Dentist. 2017;37(5):263-266.
Fraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis.
18083592
 FEMALE Infant
Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome.
Mocan MC, Ozgen B, Irkec M.
J AAPOS. 2008;12(2):210-1.
Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies.
18568997
 FEMALE Infant, Newborn
Fraser syndrome: a new case report with review of the literature.
Eskander BS, Shehata BM.
Fetal Pediatr Pathol. 2008;27(2):99-104.
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.
16396829
 FEMALE Infant, Newborn
Prenatal death in Fraser syndrome.
Comstock JM, Putnam AR, Opitz JM, Pysher TJ, Szakacs J.
Fetal Pediatr Pathol. 2005;24(4-5):223-38.
Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.
14685902
 FEMALE Child
Congenital orbito-palpebral cyst in a case of Fraser syndrome.
Amrith S, Lee Y, Lee J, Liew G, Leo S, Khoo B.
Orbit. 2003;22(4):279-83.
The child was diagnosed to have Fraser syndrome (cryptophthalmos, abnormal genitalia, mental deficiency, renal agenesis and abnormal ears).
11105430
 MIXED_SAMPLE Infant, Newborn
Fraser-cryptophthalmos syndrome.
Kabra M, Gulati S, Ghosh M, Menon PS.
Indian J Pediatr. 2000;67(10):775-8.
One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.
11105430
 MIXED_SAMPLE Infant, Newborn
Fraser-cryptophthalmos syndrome.
Kabra M, Gulati S, Ghosh M, Menon PS.
Indian J Pediatr. 2000;67(10):775-8.
One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.
11105430
 MIXED_SAMPLE Infant, Newborn
Fraser-cryptophthalmos syndrome.
Kabra M, Gulati S, Ghosh M, Menon PS.
Indian J Pediatr. 2000;67(10):775-8.
One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.
2175543
 MIXED_SAMPLE
Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.
Schauer GM, Dunn LK, Godmilow L, Eagle RC Jr, Knisely AS.
Am J Med Genet. 1990;37(4):583-91.
On autopsy at 19 weeks, findings included renal agenesis, cryptophthalmos with multiple abnormalities of the eyes and ocular adnexa, laryngeal atresia, pulmonary hyperplasia with accelerated maturation, absence of the Eustachian tube with connective tissue occupying the tympanic cavity and bone occluding the external acoustic meatus, and soft-tissue webbing between the digits.
3449813
 MIXED_SAMPLE
Fetal lung growth in congenital laryngeal atresia.
Wigglesworth JS, Desai R, Hislop AA.
Pediatr Pathol. 1987;7(5-6):515-25.
Morphometric and biochemical indexes of lung growth were measured in 2 cases of uncomplicated laryngeal atresia at 27 and 30 weeks gestation and in 1 case of cryptophthalmos syndrome with anomalies including laryngeal atresia and renal agenesis.
3449813
 MIXED_SAMPLE
Fetal lung growth in congenital laryngeal atresia.
Wigglesworth JS, Desai R, Hislop AA.
Pediatr Pathol. 1987;7(5-6):515-25.
Similar features were observed in the case of cryptophthalmos in marked contrast to the lung hypoplasia expected to result from renal agenesis.
3099574
 MIXED_SAMPLE Infant, Newborn
Isolated and syndromic cryptophthalmos.
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC.
Am J Med Genet. 1986;25(1):85-98.
All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations.
3099574
 MIXED_SAMPLE Infant, Newborn
Isolated and syndromic cryptophthalmos.
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC.
Am J Med Genet. 1986;25(1):85-98.
Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.
3099574
 MIXED_SAMPLE Infant, Newborn
Isolated and syndromic cryptophthalmos.
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC.
Am J Med Genet. 1986;25(1):85-98.
Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.
6264788
 MALE Infant, Newborn
Cryptophthalmos syndrome with bilateral renal agenesis.
Codere F, Brownstein S, Chen MF.
Am J Ophthalmol. 1981;91(6):737-42.
Cryptophthalmos syndrome with bilateral renal agenesis.